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NANBA Eiji  難波 栄二

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… Alternative Names

難波 栄二  ナンバ エイジ

灘波 栄二  ナンバ エイジ

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Researcher Number 40237631
Other IDs
External Links
Affiliation (Current) 2025: 地方独立行政法人加古川市民病院機構(臨床研究・治験センター), 臨床研究・治験センター, 医師(非常勤)
Affiliation (based on the past Project Information) *help 2022: 鳥取大学, 研究推進機構, 特任教授
2018 – 2022: 鳥取大学, 研究推進機構, 教授
2003 – 2017: Tottori University, Research Center for Bioscience and Technology, Professor, 生命機能研究支援センター, 教授
2016: 鳥取大学, 遺伝子探索分野, 教授
2009: 鳥取大学, 生命機能研究支持センター, 教授 … More
2004: TOTTORI UNIVERSITY, RESEARCH CENTER FOR BIOSCIENCE AND TECHNOLOGY, PROFESSOR, 生命機能研究支援センター, 教授
2003: 鳥取大学, 生命機能研究支援センター, 助教授
2003: 鳥取大学, 生命機能研究支援センター・遺伝子探索部門, 教授
1999 – 2002: 鳥取大学, 遺伝子実験施設, 助教授
1995 – 1997: Tottori University, Faculty of Medicine, Associate Professor, 遺伝子実験施設, 助教授
1994: 鳥取大学, 医学部附属病院, 講師
1993 – 1994: Tottori University Hospital, Division of Child Neurology, Assitant Professor, 医学部・附属病院, 講師 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Pediatrics / Biological Sciences / Basic Section 48040:Medical biochemistry-related / Laboratory medicine / Neurology
Except Principal Investigator
Pediatrics / Clinical nursing / 応用薬理学・医療系薬学 / Neurology … More / Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 09080:Science education-related / Basic Section 58060:Clinical nursing-related / Pediatrics / Science education / Medical pharmacy / Psychiatric science / Experimental pathology / Embryonic/Neonatal medicine / Applied genomics Less
Keywords
Principal Investigator
先天代謝異常症 / ライソゾーム病 / シャペロン / 治療法開発 / 自閉症 / 治療 / 中枢神経障害 / オートファジー / ゲノムインプリンティング / 遺伝子 … More / ゴーシェ病 / 先天代謝異常 / 低分子物質 / 神経変性疾患 / ライソゾーム / シグナル伝達 / 小児神経学 / 遺伝子診断 / 筋緊張性ジストロフィー症 / 中枢神経 / GM1-ガングリオシドーシス / 臨床自然言語処理 / 遺伝学的診断 / Twitter / Social Network Service / 人工知能(AI) / ゲノム医療 / 遺伝学的検査 / マイクロアレイ染色体検査 / 次世代シークエンサー / 臨床自然言語 / 変異酵素 / ライソゾーム酵素 / 構造異常 / 変異蛋白質 / シャペロン療法 / 自己不活型 / ファブリー病 / Lysosome / Carba-sugar / Low molecular compound / Therapy / Gaucher disease / 分子シャペロン療法 / β-グルコセレブロシダーゼ / 分子シャペロン / カルバ糖誘導体 / lysosomal storage disease / treatment / chemical chaperon / G_<M1>-ガングリオドシドーシス / ケミカルシャペロン / serotonin receptor gene / genome imprinting / association study / autism / HTR1A / SNPs / 関連遺伝子解析 / 遺伝 / セロトニン受容体遺伝子 / protein expression / gene expression / competitive PCR / triplet repeat disease / myotonic dystrophy / RT-PCR法 / 蛋白発現 / 遺伝子発現 / 競合PCR法 / 3塩基繰り返し配列 / 遺伝子変異 / 知的障害 / ヒスチジンリピート / HOX遺伝子 / 蛋白質構造 / 脂質代謝異常症 / 脳変成疾患 / 蛋白質立体構造 / アロステリック効果 / シャペロン化合物 / 遺伝病 / 脳疾患 / アロステリックシャペロン / 脂質代謝異常 / エンドサイトーシス / 小児神経変成疾患 / ミトコンドリア / ユビキチン / 中枢神経疾患 / ルシフェラーゼ / インシリコ解析 / 低分子化合物 / 糖質 / 病態解明 / 細胞膜 / 神経科学 / 脳神経疾患 / 神経変性 / 糖鎖 / 脂質 / アミノ酸リピート / 神経分化 / アミノ酸リビート / DNAチップ / ニューロトランスミッター / 関連遺伝子 / 精神遅滞 / 脳 / 発達障害 / インプリンティング / セロトニン / 多因子遺伝 / 単一遺伝 / 遺伝的背景 / 脳障害 / 小児 / PCR法 / 脆弱X症後群 / 三塩基繰り返し配列 / ベータガラクトシダーゼ … More
Except Principal Investigator
遺伝カウンセリング / CYP3A4 / アンケート調査 / 社会受容 / 遺伝子組換え / ゲノム編集 / CYP3A5 / Ku / DNA-PKcs / ATM / Ataxia-telangiectasia / 遺伝子 / SOD1 / 遺伝性腫瘍症候群 / 医療者間連携 / 気分プロフィール検査 / 遺伝学的検査 / 遺伝性腫瘍 / 認識調査 / superoxide dismutase / 家族性筋萎縮性側索硬化症 / 知的障害 / fukutin / 福山型筋ジストロフィー / アクティブ・ラーニング / 生命倫理 / トレーサビリティ / 安全管理 / 社会実装 / ゲノム編集技術 / 家族支援 / 看護職 / 家族への思い / コンパニオン診断 / 遺伝性腫瘍診断 / 次世代シークエンス / 病態解明 / 遺伝子解析 / GH-IGF系経路関連蛋白 / 遺伝子異常 / GH-IGFシグナル / 成長障害 / 市民の理解 / Gene Drive / 倫理 / clinical study / itraconazole / midazolam / epigenetics / allelic expression imbalance / 臨床試験 / イトラコノナゾール / ミダゾラム / ヒストンアセチル化 / メチル化 / エピジェネティックス / アレル不均等発現 / mutation / ADHD / poly-histidine repeat / DNA methylation / association study / susceptibility gene / autism / Pervasive developmental disorder / 染色体15番長腕 / 染色体7番長腕 / 神経線維症腫 / 多因子遺伝 / 複雑疾患 / アミノ酸リピート / 遺伝子変異 / 注意欠陥障害 / DNAメチル化 / アミノ酸繰り返し配列 / 相関研究 / 疾患感受性遺伝子 / 自閉症 / 広汎性発達障害 / lysosomal disease / N-octyl-4-epi-β-valianamine / genetically engineered mouse / competitive inhibitor / G_<M1>-gangliosidosis / β-galactosidase / chemical chaperone therapy / GM1-ガングリオシドーシス / β-ガラクトシダーセ / ライソゾーム病 / N-オクチル-4-エピ-β-バリエナミン / 遺伝子組換えモデルマウス / 競合的阻害剤 / G_<M1>-ガングリオシドーシス / β-ガラクトシダーゼ / ケミカルシャペロン療法 / Cerebellar ataxia / Neurodegeneration / DNA double-strand break repair / Louis-Bar syndrome / 小脳失調 / 神経細胞死 / DNA二重鎖損傷 / Louis-Bar症候群 / 毛細血管拡張性運動失調症 / differentiation / growth / cell line / temperature-sensitive / simian virus 40 / hepatic stellate cell / 分化 / 増殖 / 細胞株 / 温度感受性 / Simian Virus 40 / 肝星細胞 / Cupper / gene / familial amyotrophic lateral sclerosis / DNA / genetics / amyotrophic lateral sclerosis / multisystem atrophy / familial amyotrophic lateral sclerosi / 銅イオン / Prader-Willi syndrome / Fragile X syndrome / BRAIN DYSPLASIA / BRAIN MALFORMATION / BRAIN DEVELOPMENT / 母斑症 / Carbohydrate-deficient glycoprotein症候群 / 奇形症候群 / Prader-Willi症候群 / 脆弱X染色体 / プラダー・ビリ-症候群 / 神経成長因子 / プラダーヴィリ-症候群 / 脆弱X症候群 / 脳形成不全 / 脳奇形 / 脳形成 / immotalized cell / gene cloning / selectable markers / cholesterol transport / Niemann-Pick Desease / 染色体マッピング / 細胞内転送 / 薬剤感受性 / 遺伝子クローニング / ニーマン・ピック病 / 細胞内輸送 / コレステロール / 遺伝性疾患 / 看護師 / 遺伝医療 / チーム医療 / 発症前診断 / 気分プロフィール / コピー数多型 / 人工染色体ベクター / 人工染色体 / ゲノムコピー数多型 / SNPs / インプリント / アレル発現パターン / インプリンティング制御 / 筋萎縮性側索硬化症 Less
  • Research Projects

    (34 results)
  • Research Products

    (151 results)
  • Co-Researchers

    (50 People)
  •  Development of a new genetic testing by clinical natural language processing and comprehensive gene analysisPrincipal Investigator

    • Principal Investigator
      NANBA Eiji
    • Project Period (FY)
      2020 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 48040:Medical biochemistry-related
    • Research Institution
      Tottori University
  •  Study for handling of genome editing technique and national literacy improvement

    • Principal Investigator
      ADACHI Kaori
    • Project Period (FY)
      2019 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 09080:Science education-related
    • Research Institution
      Tottori University
  •  Research and development of therapeutic methods for Fukuyama congenital muscular dystrophy focusing on central nervous system dysfunction

    • Principal Investigator
      Okazaki Tetsuya
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tottori University
  •  Research on effective family support through intermedical collaboration to prevent the onset of hereditary tumors in family members

    • Principal Investigator
      KASAGI Noriko
    • Project Period (FY)
      2018 – 2022
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 58060:Clinical nursing-related
    • Research Institution
      Tottori University
  •  Study of handling and ethical problems about new gene modification technology, genome editing

    • Principal Investigator
      Adachi Kaori
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Science education
    • Research Institution
      Tottori University
  •  Development of new self-inactivating chaperon without side effectsPrincipal Investigator

    • Principal Investigator
      Nanba Eiji
    • Project Period (FY)
      2015 – 2016
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  Construction of an effective cooperation between health professionals by providing information to contribute to hereditary tumor prophylaxis

    • Principal Investigator
      KASAGI Noriko
    • Project Period (FY)
      2014 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Clinical nursing
    • Research Institution
      Tottori University
  •  The elucidation of growth failure due to GH/IGF signaling abnormality

    • Principal Investigator
      Kawashima Yuki
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  Devlopment of a novel allosteric chaperone therapy for genetic diseases.Principal Investigator

    • Principal Investigator
      NANBA EIJI
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  The world's first establishment of disease concept and mouse model creation about histidine repeat diseasePrincipal Investigator

    • Principal Investigator
      NANBA EIJI
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  Construction of an effective genetic counseling system by a medical care team for presymptomatic diagnosis of hereditary cancer

    • Principal Investigator
      KASAGI Noriko
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Clinical nursing
    • Research Institution
      Tottori University
  •  Development of novel therapeutic strategies for neurodegenerative lysosomal storage diseases by ameliorating autophagic degradation and brain-specific peptidesPrincipal Investigator

    • Principal Investigator
      NANBA Eiji
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  ケミカルシャペロン療法のための革新的スクリーニング法の開発Principal Investigator

    • Principal Investigator
      難波 栄二
    • Project Period (FY)
      2009 – 2010
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  Generation of human artificial vector to allow the reproduction of gene copy number variation

    • Principal Investigator
      INOUE Toshiaki
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Applied genomics
    • Research Institution
      Tottori University
  •  The mechanism of the central nervous system degeneration on lysosomal storage diseases : abnormality of cell membrane and autophagyPrincipal Investigator

    • Principal Investigator
      NANBA Eiji
    • Project Period (FY)
      2006 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  アミノ酸リピート変異に注目した自閉症などの小児神経疾患発症メカニズムの解明Principal Investigator

    • Principal Investigator
      難波 栄二
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  The role of allelic expression imbalance (AER) in interindividual differences in CYP3A4 activity and it's clinical implications.

    • Principal Investigator
      IEIRI Ichiro
    • Project Period (FY)
      2005 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Medical pharmacy
    • Research Institution
      Kyushu University
  •  遺伝研究コンソーシアムによる自閉症関連遺伝子の解明Principal Investigator

    • Principal Investigator
      難波 栄二
    • Project Period (FY)
      2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Tottori University
  •  Consortium study of search for susceptibility genes of pervasive developmental disorder

    • Principal Investigator
      SASAKI Tsukasa
    • Project Period (FY)
      2004 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Psychiatric science
    • Research Institution
      The University of Tokyo
  •  ゲノムインプリンティング制御によるCYP3A4発現・機能の個人間変動解析

    • Principal Investigator
      IEIRI Ichiro
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      応用薬理学・医療系薬学
    • Research Institution
      Tottori University
  •  Development of a new molecular therapeutic drug for brain pathology in lysosomal storage diseases

    • Principal Investigator
      SUZUKI Yoshiyuki
    • Project Period (FY)
      2002 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      応用薬理学・医療系薬学
    • Research Institution
      International University of Health and Welfare
  •  THE RESEARCH OF THE THERAPY FOR GAUCHER DISEASE WITH CENTRAL NERVOUS INVOLVEMENT BY THE LOW MOLECULAR COMPOUNDS.Principal Investigator

    • Principal Investigator
      NANBA Eiji, 岡 明
    • Project Period (FY)
      2002 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  A study of the new therapeutic method and the clinical application for central nervous involvement in inherited metabolic diseases.Principal Investigator

    • Principal Investigator
      NANBA Eiji
    • Project Period (FY)
      2001 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  The research of the DNA tip for Autism to analyze the genetic basisPrincipal Investigator

    • Principal Investigator
      NANBA Eiji
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  小児の脳障害に関連する遺伝子群を解明するための新しいシステムの開発Principal Investigator

    • Principal Investigator
      難波 栄二
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (A)
    • Review Section
      Biological Sciences
    • Research Institution
      Tottori University
  •  Gene cloning of new factors from hepatic stellate cells, production of its antibody and functional analysis

    • Principal Investigator
      KITAMURA Yukisato
    • Project Period (FY)
      1999 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Experimental pathology
    • Research Institution
      Tottori University
  •  Pathogenetic mechanisms of neuronal death in ataxia-telangiectasia

    • Principal Investigator
      OKA Akira
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOTTORI UNIVERSITY
  •  三塩基繰り返し配列異常を来す神経・筋疾患の新しい遺伝子診断システムの開発Principal Investigator

    • Principal Investigator
      難波 栄二
    • Project Period (FY)
      1997
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Laboratory medicine
    • Research Institution
      Tottori University
  •  家族性筋萎縮性側索硬化症の病態における異常SOD1蛋白の役割に関する研究

    • Principal Investigator
      NAKASHIMA Kenji
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Tottori University
  •  Immuno, Molecular and Genetic Studies on Aetiology of Brain Dysplasia

    • Principal Investigator
      TAKESHITA Kenzo
    • Project Period (FY)
      1994 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      TOTTORI UNIVERSITY
  •  Molecular, biological analyzes of familial and sporadic amyortrophic lateral sclerosis in San-in -analyzes of DNA,mRNA,content and activity of SOD1 and androgen receptor gene-

    • Principal Investigator
      NAKASHIMA Kenji
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Tottori University
  •  A study of the molecular mechanism and the gene therapy for congenital myotonic dystrophy.Principal Investigator

    • Principal Investigator
      NANBA Eiji
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Gene Research Center, Tottori University
  •  GM1-ガングリオシドーシスの中枢神経細胞モデルの確立Principal Investigator

    • Principal Investigator
      難波 栄二
    • Project Period (FY)
      1993
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Neurology
    • Research Institution
      Tottori University
  •  GENETIC STUDY OF A CHILDHOOD DISEASE AFFECTNG INTRACELLULAR CHOLESTEROL TRANSPORT

    • Principal Investigator
      OHNO Kousaku
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOTTORI UNIVERSITY

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All Journal Article Presentation Book Patent

  • [Book] All Aboutゲノム編集(実験医学増刊 Vol.34 No.20)2016

    • Author(s)
      難波栄二,足立香織ほか
    • Total Pages
      234
    • Publisher
      羊土社
    • Data Source
      KAKENHI-PROJECT-15K00979
  • [Book] 進化するゲノム編集技術2015

    • Author(s)
      難波 栄二、足立 香織ほか
    • Total Pages
      386
    • Publisher
      株式会社エヌ・ティー・エス
    • Data Source
      KAKENHI-PROJECT-15K00979
  • [Book] ガングリオシドーシス(Brain Medical)2012

    • Author(s)
      難波栄二
    • Publisher
      メディカルレビュー社
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Book] GM1-ガングリオシドーシス.先天代謝異常症候群 第2版2012

    • Author(s)
      檜垣克美、足立香織、難波栄二
    • Publisher
      日本臨床社
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Book] Brain Medical(メディカルレビュー社)2012

    • Author(s)
      難波栄二、檜垣克美
    • Publisher
      ガングリオシドーシス
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Book] 血液フロンティア(医薬ジャーナル社)2011

    • Author(s)
      難波栄二、檜垣克美
    • Publisher
      イソゾーム病の病因
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Book] 血液フロンティア、わが国のライソゾーム病の病因、病態、診断、治療2010

    • Author(s)
      難波栄二
    • Publisher
      医薬ジャーナル社
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Book] 血液フロンティア、わが国のライソゾーム病の病因、病態、診断、治療2010

    • Author(s)
      難波栄二
    • Publisher
      医薬ジャーナル社
    • Data Source
      KAKENHI-PROJECT-21659257
  • [Book] BallabioA (eds) : The Online Metabolic anMolecular Bases of Inherited Disease2008

    • Author(s)
      Suzuki Y, Nanba E, Matsuda J, Higaki KOshima A
    • Publisher
      -Galactosidase deficiency(-galactosidosis) -Galactosidosis and Morquio B disease. Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SF
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Book] 生体の科学592008

    • Author(s)
      檜垣克美, 難波栄二
    • Publisher
      アストロサイトのオートファジーとMtor
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Book] 小児科診断2006

    • Author(s)
      難波栄二, 檜垣克美, Udin Bahrudin
    • Publisher
      遺伝子診断の実機
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Book] The Metabolic and Molecular Bases of Inherited Disease, 8th ed,<http://genetics.accessmedicine.com/>(Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B (eds))2004

    • Author(s)
      Suzuki Y, Oshima A, Nanba E
    • Publisher
      McGraw-Hill, New York(Online version)
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Book] Metabolic and Molecular Bases of Inherited Disease, 8th ed, <http://genetics.accessmedicine.com/>2004

    • Author(s)
      Suzuki Y, Oshima A, Nanba E
    • Publisher
      McGraw-Hill, New York (Online version)
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Journal Article] 9年間の経過を経て若年成人期に遺伝学的検査を実施したリ・フラウメニ症候群の発症前診断の遺伝カウンセリング2021

    • Author(s)
      松浦香里、岡崎哲也、笠城典子、難波栄二、金子周平、中川奈保子、前垣義弘
    • Journal Title

      日本遺伝カウンセリング学会誌

      Volume: 42 Pages: 325-331

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K10271
  • [Journal Article] Inhibitor versus chaperone behaviour of fagomine, DAB and LAB sp2-iminosugar conjugates against glycosidases: A structure-activity relationship study in Gaucher fibroblasts.2016

    • Author(s)
      Mena-Barragain T
    • Journal Title

      Eur J Med Chem

      Volume: 121 Pages: 880-891

    • DOI

      10.1016/j.ejmech.2015.08.038

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461525, KAKENHI-PROJECT-15K15391
  • [Journal Article] Conformationally &#8211;locked N-glycosidase: Exploiting long-range non-glycone interactions in the design of pharmacological chaperones for Gaucher disease.2015

    • Author(s)
      Castilla J
    • Journal Title

      Eur J Med Chem

      Volume: 90 Pages: 258-266

    • DOI

      10.1016/j.ejmech.2014.11.002

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461525, KAKENHI-PROJECT-25293230, KAKENHI-PROJECT-15K15391
  • [Journal Article] Potent chemical chaperone compounds for GM1-gangliosidosis: N-substituted (+)-conduramine F-4 derivatives.2015

    • Author(s)
      Kuno S
    • Journal Title

      MedChemComm

      Volume: 6 Issue: 2 Pages: 206-210

    • DOI

      10.1039/c4md00270a

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26461525, KAKENHI-PROJECT-25293230
  • [Journal Article] Heterozygous nonsense mutations near the C terminal region of IGF1R in two patients with small-for-gestational-age-related short stature2015

    • Author(s)
      Masanobu Fujimoto, Yuki Kawashima Sonoyama, Naoki Hamajima, Takashi Hamajima, Yumiko Kumura, Naoki Miyahara, Rei Nishimura Kaori Adachi, Eiji Nanba, Keiichi Hanaki, Susumu Kanzaki
    • Journal Title

      Clinical Endocrinology

      Volume: 印刷中(掲載予定)

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26461546
  • [Journal Article] Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.2015

    • Author(s)
      Hossain M
    • Journal Title

      J Hum Genet

      Volume: 60 Issue: 9 Pages: 539-540

    • DOI

      10.1038/jhg.2015.61

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-26461525, KAKENHI-PROJECT-25461543, KAKENHI-PROJECT-25293230
  • [Journal Article] Highly pH-responsive pharmacological chaperones for mutant glycosidase enhancement.2015

    • Author(s)
      Mena-Barrag&#225;n T
    • Journal Title

      Angew Chem Int Ed Engl

      Volume: 54 Issue: 40 Pages: 11696-11700

    • DOI

      10.1002/anie.201505147

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461525, KAKENHI-PROJECT-15K15391, KAKENHI-PROJECT-15K21167
  • [Journal Article] Targeted delivery of pharmacological chaperones for Gaucher disease to marophages by a mannosylated cyclodextrin carrier.2014

    • Author(s)
      Rodriguez-Lavado J
    • Journal Title

      Org Biomol Chem

      Volume: 12 Issue: 14 Pages: 2289-2301

    • DOI

      10.1039/c3ob42530d

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591498, KAKENHI-PROJECT-25293230, KAKENHI-PROJECT-26461525
  • [Journal Article] Two candidate molecules for chemical chaperone therapy for GM1-gangliosidosis.2013

    • Author(s)
      Higaki K
    • Journal Title

      Future Med Chem

      Volume: 5 Issue: 13 Pages: 1551-1558

    • DOI

      10.4155/fmc.13.123

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591498, KAKENHI-PROJECT-25293230
  • [Journal Article] A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 - gangliosidosis2013

    • Author(s)
      Takai T, Higaki K, Aguilar-Moncayo M, Mena-Barragan T, Hirano Y, Yura K, Yu L, Ninomiya H, M. Garcia-Moreno I,Sakakibara Y, Ohno K, Nanba E, Ortiz Mellet C, Jose M. Fernandez G, Suzuki Y
    • Journal Title

      Mol Ther

      Volume: 21 Issue: 3 Pages: 526-532

    • DOI

      10.1038/mt.2012.263

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice2013

    • Author(s)
      Luan Z,Li LinjingHigaki K, Nanba.E,Suzuki Y, Ohno K
    • Journal Title

      Brain Dev

      Volume: 35 Issue: 4 Pages: 3170322-3170322

    • DOI

      10.1016/j.braindev.2012.05.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] 発症前診断の現状と問題点2012

    • Author(s)
      難波栄二、笠城典子
    • Journal Title

      日本遺伝カウンセリング学会誌

      Volume: Vol.33、No.3 Pages: 155-159

    • Data Source
      KAKENHI-PROJECT-23593233
  • [Journal Article] Tuning glycosidase inhibition through aglycone interactions: Pharmacological chaperones for Fabry disease and GM1gangliosidosis2012

    • Author(s)
      Aguilar-Moncayo M, Takai T, Higaki K, Mena-Barragan T, Hirano Y, Yura K, Li L, Yu Y, Ninomiya H, Garcia-Moreno I, Ishii S, Sakakibara Y, Ohno K, Nanba E, Ortiz Mellet C, Garcia Fernandez JM, Suzuki Y:
    • Journal Title

      Chem Commun

      Volume: 48 Issue: 52 Pages: 6514-6516

    • DOI

      10.1039/c2cc32065g

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] Conformationally-locked N-glycosides with selective β-glucosidase inhibitory activity: Identification of a new non-iminosugar-type pharmacological chaperone for Gaucher disease2012

    • Author(s)
      Castilla J, Risquez R. Cruz D,Higaki K, Nanba E, Ohno K, Suzuki Y, Diaz Y, Ortiz Mellet C, Carcia Fernandez JM, Castillon
    • Journal Title

      J Med Chem

      Volume: 55 Issue: 15 Pages: 6857-6865

    • DOI

      10.1021/jm3006178

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.2012

    • Author(s)
      Xiong H,Higaki K, Wei C, Bao CW, Zhanf YH, Fu N, Qui J, Adachi K, Kumura Y, Ninomiya H, Nanba E,Wu XR
    • Journal Title

      Gene

      Volume: 498 Issue: 2 Pages: 332-335

    • DOI

      10.1016/j.gene.2012.01.026

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Journal Article] Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis2012

    • Author(s)
      Suzuki Y, Ichinomiya S, Kurosawa M, Matsuda J,Ogawa S, Iida M, Kubo T, Tabe M, Itoh M, Higaki K, Nanba E,Ohno K
    • Journal Title

      Mol Genet Metab

      Volume: 106 Issue: 1 Pages: 92-98

    • DOI

      10.1016/j.ymgme.2012.02.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency2011

    • Author(s)
      HigakKLi L,Bahrudin U, Okuzawa S,Takamura A, Yamamoto K, Adachi K, Paraguison RC, Takai T, Ikehata H, Tominaga L, Hisatome I, Iida M, Ogawa S, Matsuda J, Ninomiya H, Sakakibara Y, Ohno K, Suzuki Y, Nanba E
    • Journal Title

      Hum Mutat

      Volume: 32 Issue: 7 Pages: 843-852

    • DOI

      10.1002/humu.21516

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] Lysosomal storage causes cellular dysfunction In mucolipidosis II skin fibroblasts2011

    • Author(s)
      Otomo T
    • Journal Title

      J Biol Chem

      Volume: 286(40) Issue: 40 Pages: 35283-35290

    • DOI

      10.1074/jbc.m111.267930

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591319, KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] Lysosomal accumulation of Trk protein in brain of GM1-gangliosidosis mouse and its restoration by chemical chaperone.2011

    • Author(s)
      Takamura A,Higaki K,Ninomiaya H,Takai T, Matsuda J, Iida M, Ohno K, Suzuki Y, Nanba E
    • Journal Title

      J Neurochem

      Volume: 118 Issue: 3 Pages: 399-406

    • DOI

      10.1111/j.1471-4159.2011.07310.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207, KAKENHI-PROJECT-23591498
  • [Journal Article] A fluorescent sp2-iminosugar with pharmacological chaperone activity for Gaucher disease: Synthesis and intracellular distribution studies2010

    • Author(s)
      Luan Z,Higaki K, Aquilar-Moncayo M, Li L, Ninomiya H, Nanba E Ohno K, Garcia-Moreno MI, Ortiz Mellet C, GarciaFernandez JM, Suzuki Y.
    • Journal Title

      ChemBioChem

      Volume: 11 Issue: 17 Pages: 2453-2463

    • DOI

      10.1002/cbic.201000323

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Journal Article] Chemical chaperone therapy: luciferase assay for screening of β-galactosidase mutations2010

    • Author(s)
      Li L,Higaki K, Ninomiya H, Luan Z, Iida M, Ogawa S, Suzuki Y, Ohno K, Nanba E.
    • Journal Title

      Mol Genet Metab

      Volume: 101 Issue: 4 Pages: 354-369

    • DOI

      10.1016/j.ymgme.2010.08.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Journal Article]2009

    • Author(s)
      檜垣克美、難波栄二
    • Journal Title

      生体の科学 特集 脳と糖脂質「ガングリオシド蓄積症とシグナル伝達」((財)金原一郎記念医学医療振興財団/医学書院)

      Pages: 210-216

    • Data Source
      KAKENHI-PROJECT-21659257
  • [Journal Article] Enhanced autophay and mitochondrial aberrations in murone GM1-gangliosidosis. Biochem2008

    • Author(s)
      Takamura A, Higaki K, Kajimaki K, Otsuka S, Ninomiya H, Matsuda J,Ohno K, Suzuki Y, Nanba E
    • Journal Title

      Biophys Res. Commun 367

      Pages: 616-622

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Nanba E, A case of galactosialidosis with a homozygous Q49R point mutation2008

    • Author(s)
      Matsumoto M, Gondo K, Kukita J, Higaki K, Paraguison RC, Nanba E
    • Journal Title

      Briain Dev 30

      Pages: 595-598

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] A novel mutgation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy2008

    • Author(s)
      Suzuki C, Watanabe M, Tomiyama M, Sugimoto K, Nanba E, Jackson M, Kimura T, Seino Y, Wakasaya Y, Kawarabayashi T, Miki Y, Yamamoto-Watanabe Y, Shoji M
    • Journal Title

      Eur. Neurol. 60

      Pages: 310-311

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts2008

    • Author(s)
      Gucev ZS, Tasic V, Jancevska A, Zafirovski G, Kremensky I, Sinigerska I, Nanba E, Higaki K, Gucev F, Suzuki Y
    • Journal Title

      Am, J. Med. Gened 146A

      Pages: 1736-1740

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Ubiquitin-protease system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy2008

    • Author(s)
      Bahrudin U, Morisaki H, Morisaki T, Ninomiya H, Higaki K, Nanba E, Igawa O, Takashima S, Mizuta E, Miake J, Yamamoto Y, Shirayoshi Y, Kitakaze M, Carrier L, Hisatome I
    • Journal Title

      cardiomyopathy. J. Mol. Biol 384

      Pages: 896-907

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Intracerebral cell transplantation therapy for murine GM1 gangliosidosis2008

    • Author(s)
      Sawada T, Tanaka A, Higaki K, Takamura A, Nanba E, Seto T, Maeda M, Yamaguchi E, Matsuda J, Yamano T
    • Journal Title

      Brain Dev

    • NAID

      10026412886

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Antisense suppression of TSC1 gene product, hamartin2007

    • Author(s)
      Floricel F, Higaki K, Maki H, Nanba E, Ninomiya H, Ohno K
    • Journal Title

      enhances neurite outigrowth in NGF-treated PC12h cells 29

      Pages: 502-509

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and neuronal differentiation.2007

    • Author(s)
      Paraguison R, Higaki K, Yamamoto K, Matsumoto H, Sasaki T, Kato N, Nanba E
    • Journal Title

      Journal of Neuroscience Research 85

      Pages: 479-487

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] No association between the Neuronal Pentraxin II gene polymorphism and autism2007

    • Author(s)
      Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Ishijima M, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe E, Kano Y, Kato N, Sasaki T
    • Journal Title

      Progress in Neuropsycopharmacology and Biological Psychiatry 31

      Pages: 940-943

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and neuronal differentiation2007

    • Author(s)
      Paraguison R, Higaki K, Yamamoto K, Matsumoto H, Sasaki T, Kato N, Nanba E
    • Journal Title

      Journal of Neuroscience Research 85

      Pages: 479-487

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Chemical chperone therapy : clinical effect in murine GM1-gangliosidosis2007

    • Author(s)
      Suzuki Y, Ichinomiya S, Kurosawa M, Ohkubo M, Watanabe H, Iwasaki H, Matsuda J, Noguchi Y, Takimoto K, Itoh M, Tabe M, Iida M, Kubo T, Ogawa S, Nanba E, Higaki K, Ohno K, Brady RO
    • Journal Title

      Ann. Neurol 62

      Pages: 671-675

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] No association between the Neuronal Pentraxin II gene polymorphism and autism.2007

    • Author(s)
      Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Ishijima M, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe E, Kano Y, Kato N, Sasaki T.
    • Journal Title

      Progress in Neuropsycopharmacology and Biological Psychiatry 31

      Pages: 940-943

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] No association between the Neuronal Pentraxin II gene polymorphism and autism.2007

    • Author(s)
      Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Ishijima M, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe E, Kano Y, Kato N, Sasaki T
    • Journal Title

      Progress in Neuropsycopharmacology and Biological Psychiatry 31

      Pages: 940-943

    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcription activity and inhibits neuronal differenctiation2007

    • Author(s)
      Paraguison RC, Higaki K, Yamamoto K, Matsumoto H, Sasaki T, Kato N, Nanba E
    • Journal Title

      J. Neurosci Res 85

      Pages: 478-487

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and inhibits neuronal differentiation.2007

    • Author(s)
      Paraguison RC, Higaki K, Yamamoto K, Matsumoto H, Sasaki T, Kato N, Nanba E
    • Journal Title

      J Neurosci Res. 85(3)

      Pages: 479-487

    • Data Source
      KAKENHI-PROJECT-17659315
  • [Journal Article] Tachykinin 1 (TAC1) gene SNP_s and haplotypes with autism. A case-control study.2006

    • Author(s)
      Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N, Sasaki T
    • Journal Title

      Brain and Development (Epub ahead of print)

    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism. A case-control study.2006

    • Author(s)
      Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N, Sasaki T.
    • Journal Title

      Brain and Development. (Epub ahead of print)

    • NAID

      10024136775

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Tachykinin 1 (TAC1) gene SNPs and haplotypes with autism. A case-control study2006

    • Author(s)
      Marui T, Funatogawa I, Koishi S, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N, Sasaki T
    • Journal Title

      Brain and Development (Epub ahead of print)

    • NAID

      10024136775

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Fibroblast screening for chaperone therapy in beta-galactosidosis.2006

    • Author(s)
      Iwasaki H, Watanabe H, Iida M, Ogawa S, Tabe M, Higaki K, Nanba E, Suzuki Y.
    • Journal Title

      Brain Dev 28・8

      Pages: 482-486

    • Data Source
      KAKENHI-PROJECT-18390299
  • [Journal Article] Serotonin transporter gene promotor polymorphism and autism : a family-based genetic association study in Japanese population2006

    • Author(s)
      Koishi S, Yamamoto K, Matsumoto H, Koishi S, Enseki Y, Oya A, Aaskura A, Aoki Y, Atsumi M, Iga T, Inomata J, Inoko H, Sasaki T, Nanba E, Kato N, Ishii T, Yamazaki K
    • Journal Title

      Brain and Development 28

      Pages: 257-260

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Serotonin transporter gene promotor polymorphism and autism : a family-based genetic association study in Javanese population.2006

    • Author(s)
      Koishi S, Yamamoto K, Matsumoto H, Koishi S, Enseki Y, Oya A, Aaskura A, Aoki Y, Atsumi M, Iga T, Inomata J, Inoko H, Sasaki T, Nanba E, Kato N, Ishii T, Yamazaki K.
    • Journal Title

      Brain and Development 28

      Pages: 257-60

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population2005

    • Author(s)
      Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Kato C, Ishijima M, Watanabe K, Kasai K, Kato N, Sasaki T^*
    • Journal Title

      Neuroscience Research 53

      Pages: 91-94

    • NAID

      10019360489

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death.2005

    • Author(s)
      Paraguison RC, Higaki K, Sakamoto Y, Hashimoto O, Miyake N, Matsumoto H, Yamamoto K, Sasaki T, Kato N, Nanba E.
    • Journal Title

      Biochem Biophys Res Commun 336

      Pages: 1033-9

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.2005

    • Author(s)
      Marui T, Koishi S, Funatogawa I, Yamamoto K, Matsumoto H, Hashimoto O, Nanba E, Kato C, Ishijima M, Watanabe K, Kasai K, Kato N, Sasaki T^*.
    • Journal Title

      Neuroscience Research 53

      Pages: 91-94

    • NAID

      10019360489

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Proteasomal degradation of Kir6.2 channel protein and its inhibition by a Na(+) channel blocker aprindine.2005

    • Author(s)
      Tanaka H, Miake J, Notsu T, Sonyama K, Sasaki N, Iitsuka K, Kato M, Taniguchi S, Igawa O, Yoshida A, Shigemasa C, Hoshikawa Y, Kurata Y, Kuniyasu A, Nakayama H, Inagaki N, Nanba E, Shiota G, Morisaki T, Ninomiya H, Kitakaze M, Hisatome I.
    • Journal Title

      Biochem Biophys Res Commun. 331(4)

      Pages: 1001-1006

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570746
  • [Journal Article] Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death2005

    • Author(s)
      Paraguison RC, Higaki K, Sakamoto Y, Hashimoto O, Miyake N, Matsumoto H, Yamamoto K, Sasaki T, Kato N, Nanba E
    • Journal Title

      Biochem Biophys Res Commun 336

      Pages: 1033-1039

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Polyhistidine tract expansions in HOXA1 result in intranuclear aggregation and increased cell death.2005

    • Author(s)
      Paraguison RC, Higaki K, Sakamoto Y, Hashimoto O, Miyake N, Matsumoto H, Yamamoto K, Sasaki T, Kato N, Nanba E.
    • Journal Title

      Biochem Biophys Res Commun 336(4)

      Pages: 1033-1039

    • Data Source
      KAKENHI-PROJECT-17659315
  • [Journal Article] An association between neurofibromatosis-1 (NF1) locus and autism in the Japanese population2004

    • Author(s)
      Marui T, Nanba E, Kato N, Sasaki T ほか
    • Journal Title

      American Journal of Medical Genetics, Part B 131

      Pages: 43-47

    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients.2004

    • Author(s)
      Yamamoto T, Feng JH, Higaki K, Taniguchi M, Nanba E, Ninomiya H, Ohno K.
    • Journal Title

      Brain Dev. 26(4)

      Pages: 245-250

    • NAID

      10020552645

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570746
  • [Journal Article] N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells : a potential chemical chaperone therapy for Gaucher disease.2004

    • Author(s)
      Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, Ida H, Eto Y, Ogawa S, Matsuzaki Y, Sawa M, Inoue T, Higaki K, Nanba E, Ohno K, Suzuki Y.
    • Journal Title

      Biochimica et Biophysica Acta 1689

      Pages: 219-228

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570746
  • [Journal Article] An association between the neurofibromatosis-1 (NF1) locus and autism in the Javanese population.2004

    • Author(s)
      Marui T, Hashimoto O, Nanba E, Kato C, Tochigi M, Umekage T, Kohda K, Kato N, Sasaki T^*.
    • Journal Title

      Amrican Journal of Medical Genetics Part-B 131B

      Pages: 43-47

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] υ^^--Galactosidase deficiency (υ^^--galactosidosis) : G_<M1>-Gangliosidosis and Morquio B disease2004

    • Author(s)
      Suzuki Y, Oshima A, Nanba E
    • Journal Title

      The Metabolic and Molecular Bases of Inherited Disease, 8th ed, <http://genetics.accessmedicine.com/>(Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B (eds))(McGraw-Hill, New York)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Journal Article] N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells : a potential chemical chaperone therapy for Gaucher disease2004

    • Author(s)
      Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, Ida H, Eto Y, Ogawa S, Matsuzaki Y, Sawa M, Inoue T, Higaki K, Nanba E, Ohno K, Suzuki Y
    • Journal Title

      Biochim Biophys Acta 1689

      Pages: 219-228

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Journal Article] Gastrin-Releasing Peptide Receptor (GRPR) gene polymorphisms (C/450/T and C/661/T) in Japanese subjects with autistic disorder : no evidence for an association2004

    • Author(s)
      Marui T, Hashimoto O, Nanba E, Kato C, Tochigi M, Umekage T, Kato N, Sasaki T
    • Journal Title

      Brain and Development 26

      Pages: 5-7

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Gastrin-Releasing Peptide Receptor (GRPR) gene polymorphisms (C/450/T and C/661/T) in Japanese subjects with autistic disorder2004

    • Author(s)
      Marui T, Nanba E, Kato N, Sasaki T ほか
    • Journal Title

      Brain and Development 26

      Pages: 5-7

    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] An association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population2004

    • Author(s)
      Marui T, Hashimoto O, Nanba E, Kato C, Tochigi M, Umekage T, Kohda K, Kato N, Sasaki T^*
    • Journal Title

      Amrican Journal of Medical Genetics Part-B 131

      Pages: 43-47

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Gastrin-Releasing Peptide Receptor (GRPR) gene polymorphisms (C/450/T and C/661/T) in Japanese subjects with autistic disorder : no evidence for an association.2004

    • Author(s)
      Marui T, Hashimoto O, Nanba E, Kato C, Tochigi M, Umekage T, Kato N, Sasaki T^*.
    • Journal Title

      Brain and Development 26

      Pages: 5-7

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.2004

    • Author(s)
      Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady A, Carpenter NJ, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Russel KL, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB.
    • Journal Title

      Hum Mutat 23

      Pages: 147-159

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570746
  • [Journal Article] N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells : a potential chemical chaperone therapy for Gaucher disease2004

    • Author(s)
      Lin H, Sugimoto Y, Ohsaki Y, Ninomiya H, Oka A, Taniguchi M, Ida H, Eto Y, Ogawa S, Matsuzaki Y, Sawa M, Inoue T, Higaki K, Nanba E, Ohno K, Suzuki Y
    • Journal Title

      Biochem Biophys Acta 1689

      Pages: 219-228

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Journal Article] Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.2003

    • Author(s)
      Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady RO, Suzuki Y.
    • Journal Title

      Proc Natl Acad Sci USA. 100(26)

      Pages: 15912-15917

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570746
  • [Journal Article] Chemical chaperone therapy for brain pathology in G_<M1>-gangliosidosis2003

    • Author(s)
      Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady RO, Suzuki Y
    • Journal Title

      Proc Natl Acad Sci USA 100

      Pages: 15912-15917

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Journal Article] Attenuation of ganglioside G_<M1> accumulation in the brain of G_<M1> gangliosidosis mice by neonatal intravenous gene transfer2003

    • Author(s)
      Takaura N, Yagi T, Maeda M, Nanba E, Oshima A, Suzuki Y, Yamano T, Tanaka A
    • Journal Title

      Gene Ther 10

      Pages: 1487-1493

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Journal Article] Chemical chaperone therapy for brain pathology in G_<M1>-gangliosidosis2003

    • Author(s)
      Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H Brady RO, Suzuki Y
    • Journal Title

      Proc Natl Acad Sci USA 100

      Pages: 15912-15917

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Journal Article] New GAA mutations in Japanese patients with GSDII (Pompe disease).2003

    • Author(s)
      Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K.
    • Journal Title

      Pediatr Neurol 29

      Pages: 284-287

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14570746
  • [Journal Article] Enhanced autophagic cell death in expanded polyhistidine variants of HOXA1 reduces PBX1-coupled transcriptional activity and neuronal differentiation.

    • Author(s)
      Paraguison R, Higaki K, Yamamoto K, Matsumoto H, Sasaki T, Kato N, Nanba E
    • Journal Title

      Journal of Neuroscience Research (In press)

    • Data Source
      KAKENHI-PROJECT-16390320
  • [Journal Article] The TSC1 gene product hamartin interacts with NADE

    • Author(s)
      Yasui S, Tsuzaki K, Ninomiya H, Floricel F, Asano Y, Maki H, Takamura A, Nanba E, Higaki K, Ohno K
    • Journal Title

      Mol Cell Neurosic 35

      Pages: 100-108

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Patent] UTILIZACION DE DERIVADOS BICICLICOS DE1-DESOXIGALACTONOJIRIMICINA EN LA PREPARACION DE UNMEDICAMENTO PARA EL TRATAMIENTO DE ENFERMEDADESRELACIONADAS CON BETA-ENZIMAS GALACTOSIDASAS LISOSOMICAS MUTANTES HUMANAS2012

    • Inventor(s)
      Jose Manuel Garcia Fernandez,Carmen Ortiz Mellet,Eiji Nanba,Katsumi Higak、Yoshiyuki Suzuki
    • Industrial Property Rights Holder
      SPANISH NATIONAL RESEARCH COUNCIL (CSIC)
    • Filing Date
      2012-12-26
    • Overseas
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Patent] 糖脂質代謝異常症治療剤2002

    • Inventor(s)
      鈴木 義之, 難波 栄二, 松田 潤一郎
    • Industrial Property Rights Holder
      生化学工業株式会社
    • Industrial Property Number
      2002-260534
    • Filing Date
      2002-09-05
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Patent] Carba-sugar amine derivatives and treatments for disorder of glycolipid metabolism containing the same as the active ingredient2002

    • Inventor(s)
      小川 誠一郎, 鈴木 義之, 難波 栄二, 松田 潤一郎, 大野 耕策
    • Industrial Property Rights Holder
      生化学工業株式会社
    • Filing Date
      2002-09-02
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14207106
  • [Presentation] ゲノム編集および遺伝子組換えに対する一般市民の意識調査2023

    • Author(s)
      足立香織、難波栄二
    • Organizer
      日本ゲノム編集学会第8回大会
    • Data Source
      KAKENHI-PROJECT-19K03143
  • [Presentation] 鳥取大学医学部附属病院での遺伝性腫瘍の遺伝カウンセリングの現状2022

    • Author(s)
      青木智彩子、岡崎哲也、笠城典子、難波栄二、前垣義弘
    • Organizer
      日本人類遺伝学会第67回大会
    • Data Source
      KAKENHI-PROJECT-18K10271
  • [Presentation] Li-Fraumeni症候群の発症前診断の遺伝カウンセリング2020

    • Author(s)
      松浦香里、岡崎哲也、笠城典子、難波栄二、金子周平、中川奈保子、前垣義弘
    • Organizer
      第44回日本遺伝カウンセリング学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K10271
  • [Presentation] デュシェンヌ型筋ジストロフィーの遺伝カウンセリング:保因者診断の対応2019

    • Author(s)
      松浦香里、岡崎哲也、笠城典子、難波栄二、前垣義弘
    • Organizer
      第43回日本遺伝カウンセリング学会学術集会、第26回日本遺伝子診療学会大会 合同学術集会
    • Data Source
      KAKENHI-PROJECT-18K10271
  • [Presentation] 鳥取大学における出生前診断の現状2018

    • Author(s)
      奈良井哲、足立香織、岡崎哲也、笠城典子、前垣義弘、原田崇、原田省、神崎晋、難波栄二
    • Organizer
      第15回中国四国出生前医学研究会
    • Data Source
      KAKENHI-PROJECT-26463341
  • [Presentation] 鳥取大学医学部附属病院における遺伝子診療科の現状と看護師の役割についての考察2018

    • Author(s)
      西田美保子、笠城典子、松浦香里、林原あすみ、岡崎哲也、難波栄二、前垣義弘、干村修子
    • Organizer
      日本医療マネジメント学会鳥取支部
    • Data Source
      KAKENHI-PROJECT-18K10271
  • [Presentation] 鳥取大学医学部附属病院遺伝子診療科の8年間の実績と今後の課題2017

    • Author(s)
      平岡弓枝、笠城典子、岡崎哲也、前垣義弘、難波栄二
    • Organizer
      第41回日本遺伝カウンセリング学会学術集会
    • Data Source
      KAKENHI-PROJECT-26463341
  • [Presentation] ライソゾーム病に対するpH感受性新規シャペロン化合物の開発.2015

    • Author(s)
      成田綾、檜垣克美、難波栄二 他
    • Organizer
      第57回日本先天代謝異常学会
    • Place of Presentation
      大阪国際会議場
    • Year and Date
      2015-11-12
    • Data Source
      KAKENHI-PROJECT-15K15391
  • [Presentation] ライソゾーム病に対するpH依存的に不活化する新規シャペロン化合物の開発2015

    • Author(s)
      難波栄二 檜垣克美
    • Organizer
      日本人類遺伝学会 第60回大会
    • Place of Presentation
      京王プラザホテル
    • Year and Date
      2015-10-14
    • Data Source
      KAKENHI-PROJECT-15K15391
  • [Presentation] 鳥取大学における2013年の遺伝子診断を用いた出生前診断2014

    • Author(s)
      難波栄二、足立香織、笠城典子、中川奈保子、金子周平、原田省、原田崇、林美奈子、神崎晋
    • Organizer
      第11回中国四国出生前医学研究会
    • Place of Presentation
      岡山コンベンションセンター(岡山)
    • Year and Date
      2014-02-01
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] 鳥取大学における2013年の遺伝子診断を用いた出生前診断2014

    • Author(s)
      難波栄二、足立香織、笠城典子、中川奈保子、金子周平、原田省、原田崇、林美奈子、神崎晋
    • Organizer
      第11回中国四国出生前医学研究会
    • Place of Presentation
      岡山コンベンションセンター(岡山)
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] Comparison of two Chaperone candidates for treatment of GM1-gangliosidosis2013

    • Author(s)
      Takai T, Higaki K, Suzuki Y, Nanba E
    • Organizer
      The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual Meeting for The Japanese Society for Inherited Metabolic Diseases
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-25293230
  • [Presentation] 鳥取大学における遺伝病の出生前診断体制について2013

    • Author(s)
      難波栄二、足立香織、笠城典子、中川奈保子、金子周平、大野耕策、原田省、原田崇、林美奈子、神崎晋
    • Organizer
      第10回中国四国出生前医学研究会
    • Place of Presentation
      岡山国際交流センター(岡山)
    • Year and Date
      2013-02-02
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] β-ガラクトシダーゼ欠損症に対するシャペロン治療薬の開発2013

    • Author(s)
      難波栄二, 檜垣克美, 髙井知子, 由良敬, 榊原康文, Carmen Ortiz Mellet, Jose M. Garcia Fernandez, 鈴木義之
    • Organizer
      第58回日本人類遺伝学会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-25293230
  • [Presentation] Chaperone therapy for lysosomal storage diseases2013

    • Author(s)
      Nanba E
    • Organizer
      The 3rd Asian Congress for Inherited Metabolic Diseases / The 55th Annual Meeting for The Japanese Society for Inherited Metabolic Diseases
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-25293230
  • [Presentation] 鳥取大学遺伝子診療科における2011年の遺伝子診断を用いた出生前診断2012

    • Author(s)
      難波栄二
    • Organizer
      中国四国出生前医学研究会
    • Place of Presentation
      岡山コンベンションセンター(岡山県)
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] 鳥取大学遺伝子診療科における2011年の遺伝子診断を用いた出生前診断2012

    • Author(s)
      難波栄二、足立香織、笠城典子、金子周平、菊池義人、大野耕策、近藤章子、戸川雅美、成田綾、原田省、原田崇、鞁嶋有紀、林美奈子、神崎晋
    • Organizer
      第9回中国四国出生前医学研究会
    • Place of Presentation
      岡山コンベンションセンター(岡山)
    • Year and Date
      2012-02-04
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] ヒトI51T変異β-ガラクトシダーゼに有効な新規ケミカルシャペロン化合物の解析.2012

    • Author(s)
      高井知子, 檜垣克美, Ortiz Mellet C, Garcia Fernandez JM, 大野耕策, 鈴木義之, 難波栄二
    • Organizer
      第54回日本先天代謝異常学会
    • Place of Presentation
      岐阜
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ファブリー病ならびにGM1-ガングリオシドーシスに対する新しいシャペロン治療薬の開発2012

    • Author(s)
      難波栄二, 檜垣克美,高井知子, Yu Yi, 大野耕策, 鈴木義之
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] 鳥取大学遺伝子診療科における出生前診断の3例2012

    • Author(s)
      難波栄二、足立香織、笠城典子、菊池義人、金子周平、大野耕策、近藤章子、戸川雅美、成田綾、原田省、原田崇、鞁嶋有紀、林美奈子、神崎晋
    • Organizer
      第35回日本小児遺伝学会学術集会
    • Place of Presentation
      久留米大学筑水会館(久留米)
    • Year and Date
      2012-04-19
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] 鳥取大学医学部附属病院における遺伝子診療の方向について2012

    • Author(s)
      難波栄二、笠城典子、足立香織、大坪健司、紀川純三
    • Organizer
      第36回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      信州大学医学部附属病院(松本)
    • Year and Date
      2012-06-09
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] A novel chaperone compound for GM1-gangliosidosis.2012

    • Author(s)
      Takai T,Higakai K,Ortiz Mellet C, Garcia Fernandez JM, Ohno K, Suzuki Y, Nanba E:
    • Organizer
      第17回日本ライソゾーム病研究会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1-gangliosidosis.2012

    • Author(s)
      Yu Y ,Higaki K,Takai T, Ortiz Mellet C, Garcia Fernandez JM, Ohno K, Suzuki Y, Nanba E
    • Organizer
      第17回ライソゾーム病研究会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ベータガラクトシダーゼに対する新規シャペロン候補化合物の解析2011

    • Author(s)
      高井知子,檜垣克美,Ortiz Mellet C, Garcia Fernandez J, 大野耕策, 鈴木義之, 難波栄二
    • Organizer
      第53回日本先天代謝異常学会総会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] GM1ガングリオシドーシスモデルマウス脳におけるシグナル伝達異常2011

    • Author(s)
      檜垣克美, 高村歩美, 大野耕策, 鈴木義之, 難波栄二
    • Organizer
      第16回日本ライソゾーム病シンポジウム
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ヒト変異β-ガラクトシダーゼに対する新規シャペロン化合物2011

    • Author(s)
      高井知子,檜垣克美,鈴木義之、難波栄二
    • Organizer
      第84回 日本生化学会大会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] Chemical chaperone therapy for lysosomal storage diseases2011

    • Author(s)
      Nanba E
    • Organizer
      Satellite Symposium of Asian Congress for Inherited Metabolic Diseases 2011 Tokyo Meeting on Lysosomal Storage Disease Screening
    • Place of Presentation
      キャンパスイノベーションセンター(東京都)(招待講演)
    • Year and Date
      2011-08-04
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ファブリー病に対する新規シャペロン候補化合物の解析2011

    • Author(s)
      Yi Y,檜垣克美,Ortiz Mellet C,Garcia Fernandez J, 大野耕策, 鈴木義之, 難波栄二
    • Organizer
      第53回 日本先天代謝異常学会総会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] 鳥取大学医学部附属病院での出生前診断への取り組み2011

    • Author(s)
      笠城典子、足立香織、金子周平、菊池義人、大野耕策、近藤章子、戸川雅美、原田省、原田崇、難波栄二
    • Organizer
      第35回日本遺伝カウンセリング学会学術集会(遺伝医学合同学術集会2011)
    • Place of Presentation
      京都大学百周年時計台記念館(京都)
    • Year and Date
      2011-06-18
    • Data Source
      KAKENHI-PROJECT-23593233
  • [Presentation] Chemical chaperone therapy for lysosomal storage diseases.2011

    • Author(s)
      Nanba E
    • Organizer
      Satellite Symposium of Asian Congress for Inherited Metabolic Diseases 2011 Tokyo Meeting on Lysosomal Storage Disease Screening
    • Place of Presentation
      Tokyo
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] Chemical chaperone therapy for β-galactosidase deficiency.2011

    • Author(s)
      Higaki K, Ohno K, Suzuki Y, Nanba E
    • Organizer
      12th International Congress of Human Genetics
    • Place of Presentation
      Montreal, Canada
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency2011

    • Author(s)
      Takai T,Higaki K, Ohno K, Suzuki Y, Nanba E
    • Organizer
      Satellite Symposium of Asian Congress for Inherited Metabolic Diseases 2011 Tokyo Meeting on Lysosomal Storage Disease Screening
    • Place of Presentation
      Tokyo
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ゴーシェ病に対する蛍光標識薬理学的シャペロンの効果に関する検討2010

    • Author(s)
      檜垣克美、〓卓、李林静、難波栄二、大野耕策
    • Organizer
      第15回日本ライソゾーム病シンポジウム
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] GM1-ガングリオシドーシス脳神経細胞内のユビキチン化蛋白質の蓄積2010

    • Author(s)
      難波栄二、檜垣克美
    • Organizer
      第52回 日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ケミカルシャペロン療法2010

    • Author(s)
      難波栄二
    • Organizer
      第52回日本先天代謝異常学会
    • Place of Presentation
      大阪国際会議場(大阪市)
    • Year and Date
      2010-10-22
    • Data Source
      KAKENHI-PROJECT-21659257
  • [Presentation] GM1-ガングリオシドーシス脳神経細胞内のユビキチン化蛋白質の蓄積2010

    • Author(s)
      難波栄二
    • Organizer
      第52回日本小児神経学会
    • Place of Presentation
      福岡国際会議場(福岡市)
    • Year and Date
      2010-05-20
    • Data Source
      KAKENHI-PROJECT-21659257
  • [Presentation] ベータガラクトシダーゼに対するシャペロン活性測定のための新規細胞系の構築.2010

    • Author(s)
      高井知子,大野耕策,李林静,飯田真己,大野耕策,鈴木義之,難波栄二
    • Organizer
      第52回 日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ヒト変異β-ガラクトシダーゼに対するシャペロン効果2010

    • Author(s)
      高井知子,大野耕策,李林静,榊原康文,鈴木義之,難波栄二
    • Organizer
      第83回 日本生化学会大会
    • Place of Presentation
      神戸
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ケミカルシャペロン療法2010

    • Author(s)
      難波栄二
    • Organizer
      第52回 日本先天代謝異常学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] GM1-ガングリオシドーシス脳神経細胞内のユビキチン化蛋白質の蓄積2010

    • Author(s)
      難波栄二
    • Organizer
      第52回日本小児神経学会
    • Place of Presentation
      福岡国際会議場(福岡市)
    • Year and Date
      2010-05-20
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] ケミカルシャペロン療法2010

    • Author(s)
      難波栄二
    • Organizer
      第52回日本先天代謝異常学会
    • Place of Presentation
      大阪国際会議場(大阪市)
    • Year and Date
      2010-10-22
    • Data Source
      KAKENHI-PROJECT-22390207
  • [Presentation] GM1-ガングリオシドーシスに対するケミカルシャペロン療法2009

    • Author(s)
      難波栄二
    • Organizer
      第51回 日本小児神経学会
    • Place of Presentation
      米子コンベンションセンター(米子市)
    • Year and Date
      2009-05-29
    • Data Source
      KAKENHI-PROJECT-21659257
  • [Presentation] 人工染色体システムを用いたトリプレットリピート解析系の構築2008

    • Author(s)
      中山祐二、井上敏昭、押村光雄、難波栄二
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      パシフィコ横浜(横浜市)
    • Year and Date
      2008-09-27
    • Data Source
      KAKENHI-PROJECT-20310120
  • [Presentation] ライソゾーム病の中枢神経症状の治療(教育講演)2008

    • Author(s)
      難波栄二
    • Organizer
      第50回日本先天代謝異常学会
    • Place of Presentation
      米子
    • Year and Date
      2008-11-07
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ライソゾーム病の中枢神経症状の治療2008

    • Author(s)
      難波栄二
    • Organizer
      第50回日本先天代謝異常学会総会
    • Place of Presentation
      米子
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ライソゾーム病神経変性とオートファジーの異常2008

    • Author(s)
      檜垣克美、李林静、高村歩美、鈴木義之、難波栄二
    • Organizer
      第13回日本ライソゾーム病研究会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ヒトβ-ガラクトシダーゼ遺伝子変異とケミカルシャペロン療法2008

    • Author(s)
      難波栄二
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-30
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] GM1-ガングリオシドーシスとオートファジー機能異常2008

    • Author(s)
      難波栄二、檜垣克美
    • Organizer
      第50回日本小児神経学総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] G_<M1>-ガングリオシドーシスモデルマウスにおけるオートファジーの異常2008

    • Author(s)
      檜垣克美、高村歩美、松田潤一郎、鈴木義之、難波栄二
    • Organizer
      第50回日本先天代謝異常学会総会
    • Place of Presentation
      米子
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] G_<M1>-ガングリオシドーシスにおける神経細胞膜機能異常とTrkシグナルの亢進2008

    • Author(s)
      李林静、檜垣克美、高村歩美、飯田真巳、松田潤一郎、鈴木義之、難波栄二
    • Organizer
      第50回日本先天代謝異常学会総会
    • Place of Presentation
      米子
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ヒト・-ガラクトシダーゼ遺伝子変異とケミカルシャペロン療法2008

    • Author(s)
      難波栄二、檜垣克美、足立香織、李林静、飯田真巳、松田潤一郎、鈴木義之
    • Organizer
      第53回日本人類遣伝学会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] GM1-ガングリオシドーシスとオートファジー機能異常2008

    • Author(s)
      難波栄二
    • Organizer
      第50回日本小児神経学会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-29
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ・-ガラクトシダーゼ遺伝子変異とケミカルシャペロン療法2008

    • Author(s)
      池端宏記、檜垣克美、李林静、飯田真巳、松田潤一郎、鈴木義之、難波栄二
    • Organizer
      第50回日本先天代謝異常学会総会
    • Place of Presentation
      米子
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ライソゾーム病の脳内病変に対する細胞治療2007

    • Author(s)
      澤田智、田中あけみ、瀬戸俊之、松田潤一郎、難波栄二、山野恒一
    • Organizer
      第49回日本ライソゾーム病研究会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] G^<M1>-ガングリオシドーシスに対するケミカルシャペロン療法のマウスモデル細胞を用いた解析2007

    • Author(s)
      檜垣克美、高村歩美、梶巻賢哉、飯田真巳、鈴木義之、難波栄二
    • Organizer
      第49回日本先天代謝異常学会総会
    • Place of Presentation
      山形
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] 細胞移植によるライソゾーム病脳病変の長期治療の可能性についての検討2007

    • Author(s)
      澤田智、田中あけみ、瀬戸俊之、前田光代、高村歩美、檜垣克美、難波栄二、松田潤一郎、山口悦子、山野恒一
    • Organizer
      第49回日本先天代謝異常学会総会
    • Place of Presentation
      山形
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] DNAマイクロアレイを用いたGM1-ガングリオシドーシス神経変性機構の解明2007

    • Author(s)
      難波栄二, 他
    • Organizer
      第49回日本小児神経学会
    • Place of Presentation
      大阪
    • Year and Date
      2007-07-05
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ・-ガラクトシダーゼ欠損症の神経変性におけるTrk受容体の機能異常2007

    • Author(s)
      高村歩美、檜垣克美、松田潤一郎、飯田真巳、鈴木義之、難波栄二
    • Organizer
      第30回神経科学大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] DNAマイクロアレイを用いたGM1-ガングリオシドーシス神経変性機構の解明2007

    • Author(s)
      難波栄二、檜垣克美
    • Organizer
      第49回日本小児神経学総会
    • Place of Presentation
      大阪
    • Year and Date
      2007-05-07
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] GM1-ガングリオシドーシスに対するケミカルシャペロン療法の分子解析2006

    • Author(s)
      野中和香子、檜垣克美、高村歩美、飯田真巳、小川誠一郎、岩崎浩之、松田潤一郎、鈴木義之、難波栄二
    • Organizer
      第12回日本ライソーム病研究会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] G^<M1>-ガングリオシドーシス神経変性におけるTrk受容体の機能異常2006

    • Author(s)
      高村歩美、檜垣克美、松田潤一郎、鈴木義之、難波栄二
    • Organizer
      第29回日本神経科学大学
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] -ガラクトシダーゼ欠損症遺伝子変異とケミカルシャペロン療法の検討2006

    • Author(s)
      檜垣克美、高村歩美、山本浩一、飯田真巳、小川誠一郎、岩崎浩之、松田潤一郎、鈴木義之、難波栄二
    • Organizer
      第51回日本人類遣伝学会大会
    • Place of Presentation
      米子
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ライソゾーム病の脳病変に対する細胞治療2006

    • Author(s)
      澤田智、田中あけみ、前田光代、直原育久代、瀬戸俊之、松田潤一郎、國枝孝典、高野薫、難波栄二、檜垣克美、高村歩美、山口悦子、山野恒一
    • Organizer
      第50回日本人類遣伝学会大会
    • Place of Presentation
      米子
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] Cell therapy for the brain involvment in lysosomal storage disease2006

    • Author(s)
      Sawada T, Tanaka A, Seto T, Maeda M, Jikihara I, Yamaguchi E, Matsuda J, Nanba E, Yamano T
    • Organizer
      The 10^<th> International Congress of Inborn Errors of Metabolis
    • Place of Presentation
      (ICIEM), Chiba, Japan
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] Impairment of Trk signaling in G^<M1>-gangliosidosis mice brains2006

    • Author(s)
      Takamura A, Higaki K, Matsuda J, Suzuki Y, Nanba E
    • Organizer
      The 10^<th> International Congress of Inborn Errors of Metabolis
    • Place of Presentation
      (ICIEM), Chiba, Japan
    • Data Source
      KAKENHI-PROJECT-18390299
  • [Presentation] ライソゾーム病に対するシャペロン療法

    • Author(s)
      難波栄二
    • Organizer
      第2回先天代謝異常症患者会フォーラム
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-25293230
  • [Presentation] ファブリー病ならびにGM1-ガングリオシドーシスに対する新しいシャペロン治療薬の開発.

    • Author(s)
      難波栄二
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      京王プラザホテル(東京都)
    • Data Source
      KAKENHI-PROJECT-22390207
  • 1.  HIGAKI Katumi (90294321)
    # of Collaborated Projects: 9 results
    # of Collaborated Products: 0 results
  • 2.  ADACHI Kaori (50609237)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 4 results
  • 3.  AKABOSHI Shinjiro (90231810)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 0 results
  • 4.  Okazaki Tetsuya (30465299)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 7 results
  • 5.  OKA Akira (00251273)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 3 results
  • 6.  MAEGAWA Shinji (70314606)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 7.  KASAGI Noriko (60185741)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 15 results
  • 8.  SUZUKI Yasue (10346348)
    # of Collaborated Projects: 3 results
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  • 9.  YAMAMOTO Kenji (10287071)
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    # of Collaborated Products: 15 results
  • 10.  OHBAYASHI Tetsuya (80348804)
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    # of Collaborated Products: 0 results
  • 11.  NAKASHIMA Kenji (70144673)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 12.  ADACHI Yoshiki (80243385)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 13.  IEIRI Ichiro (60253473)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 14.  OTSUBO Kenji (80260701)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 15.  SASAKI Tsukasa (50235256)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 21 results
  • 16.  MATSUMOTO Hideo (90199886)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 15 results
  • 17.  OHNO Kousaku (70112109)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 4 results
  • 18.  YAMAMOTO Toshiyuki (20252851)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 19.  SUZUKI Yoshiyuki (90010389)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 8 results
  • 20.  INOUE Toshiaki (80305573)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 21.  KATOH Motonobu (00273904)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 22.  TAKEYA Hiroyuki (60222105)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  KIKUCHI Yoshito (50389558)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 24.  KAWATA YASUSHI (40177697)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  TAKESHITA Kenzo (90037375)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  MAEOKA Yukinori (30273890)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  KITAMURA Yukisato (20204919)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  TERADA Tadashi (30188677)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 29.  KUROSAWA Mieko (30178131)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 30.  MATSUDA Junichiro (60181731)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 31.  INOUE Takehiko (80346361)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 32.  KATO Nobumasa (10106213)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 21 results
  • 33.  BURIOKA Naoto (50252854)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 34.  Kawashima Yuki (20403412)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 35.  Hanaki Keiichi (20238041)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 36.  Kanzaki Susumu (90224873)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 37.  Takahashi Shin-ichiro (00197146)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 38.  河野 泰久 (30093587)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 39.  小枝 達也 (70225390)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 40.  榊原 康文 (10287427)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 41.  金子 周平 (10529431)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 42.  汐田 まどか (00252867)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 43.  石島 路子 (70359602)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 44.  GOTO Yu-ichi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 45.  IIDA Masami
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 46.  Fujimoto Masanobu
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 47.  Hasegawa Akiko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 48.  江原 寛昭
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 49.  松崎 祐二
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 50.  桧垣 克美
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 59 results

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