Sakai Norio 酒井規夫

… Alternative Names

酒井規夫サカイノリオ

SAKAI Norio 酒井規夫

酒井則夫サカイノリオ

Less

Researcher Number	30314313
Other IDs
Affiliation (Current)	2025: 大阪大学, 大学院医学系研究科, 名誉教授
Affiliation (based on the past Project Information) *help	2025: 大阪大学, 大学院医学系研究科, 名誉教授 2022 – 2023: 大阪大学, 大学院医学系研究科, 教授 2019 – 2021: 大阪大学, 医学系研究科, 教授 2015: 大阪大学, 医学(系)研究科(研究院), 教授 2013 – 2014: 大阪大学, 医学(系)研究科(研究院), 准教授 … More 2011: 大阪大学, 医学系・研究科, 准教授 2009 – 2011: Osaka University, 医学系研究科, 准教授 2005 – 2007: Osaka University, Graduate School of Medicine, Assistant Professor, 医学系研究科, 講師 2000 – 2004: 大阪大学, 医学系研究科, 助手 Less
Review Section/Research Field	Principal Investigator Pediatrics / Pediatrics Except Principal Investigator Medium-sized Section 58:Society medicine, nursing, and related fields / Pediatrics / Basic Section 58070:Lifelong developmental nursing-related / Pediatrics
Keywords	Principal Investigator ESCO2 / pQCT / Lrp6 / T cell death associated gene 8 / 催奇性因子 / クラッベ病 / Krabbe disease / リソソーム病 / ムコリピドーシス / Roberts syndrome … More / teratogen / salidomide / ESC02 / ロバーツ症候群 / 催奇形性 / サリドマイド / Wnt signaling / spina bifida / スクリーニング / 催奇性薬剤 / 葉酸 / Wntシグナル / 二分脊椎 / Molecular shaperon / saposin A / Farber disease / psychosine / lysosomal disease / DHPLC法 / 蛋白質発現系 / 遺伝子変異解析 / ガラクトセレブロシダーゼ / 分子シャペロン / サポシンA / ファーバー病 / サイコシン / deformity / teratogenic factor / congenital defects / 形態形成 / 先天異常 / ライソゾーム酵素 / プロセッシング / シャペロン / オートファジー / ファブリー病 / ガラクトシアリドーシス / chaperone / autophagy / Fabry disease / galactosialidosis / GlcNAc-transphosphatase / GlcNac-phosphotranspherase / ライソゾームのpH / ライソゾーム病 / G1cNAc-phosphotranspharase / 治療実験 / 病態解析 / G1cNAc-transphosphatase / I-cell病 … More Except Principal Investigator TGF-β / MCP-1 / アポトーシス / 希少疾患 / ライソゾーム病 / 先天代謝異常 / 患者報告型アウトカム / 保健師 / 深層学習 / AI / 一次スクリーニング / 市町村母子保健 / 児童虐待リスク / 地域保健 / 生活習慣病 / 疫学 / 公衆衛生 / 双生児研究 / Apoptois / Neuropathology / Prostaglandin D synthase / Astrocyte / Microglia / Neuroinflammation / Prostaglandin D2 / Demyelination / 脱髄 / 神経病理 / プロスタグランジンD合成酵素 / アストロサイト / ミクログリア / 神経炎症 / プロスタグランジンD2 / 脱随 / Ceramide / apoptosis / Subcutaneous nodules / Farber disease / 脂質蓄積 / リソソーム病 / RT-PCR法 / 炎症性サイトカイン / セラミド / 皮下結節 / ファーバー病 / 遺伝子治療 / mdx マウス / 急性壊死モデル / リコンビナントHGF / 筋ジストロフィー Less

Development and implementation of comprehensive evaluation package using patient-reported outcomes with inherited metabolic disorders and their families
- Principal Investigator
  
  古藤雄大
- Project Period (FY)
  2025 – 2028
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 58070:Lifelong developmental nursing-related
- Research Institution
  Kansai Medical University
Basic Research for Longitudinal Child Abuse Risk Assessment and System Development from Prenatal Period Using AI
- Principal Investigator
  
  岡本玲子
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 58:Society medicine, nursing, and related fields
- Research Institution
  Osaka University
Collaboration and comparison on twin analysis of genomic/epigenomic information and common diseases: Hungary and Japan
- Principal Investigator
  
  本多智佳
- Project Period (FY)
  2019 – 2024
- Research Category
  
  Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
- Review Section
  
  Medium-sized Section 58:Society medicine, nursing, and related fields
- Research Institution
  Shiga University of Medical Science
  Osaka University
Study for autophagy in lysosomal diseases and development of drug screeningPrincipal Investigator
- Principal Investigator
  
  Sakai Norio
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Mucolipidosis ; Pathological analysis and development of therapyPrincipal Investigator
- Principal Investigator
  
  SAKAI Norio
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Analysis of the Molecular Pathology for the Salidonmide SyndromePrincipal Investigator
- Principal Investigator
  
  SAKAI Norio
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Prostaglandin D_2 is a key molecule for neuroinflammation in the demyelinating diseases
- Principal Investigator
  
  TANIIKE Masako
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Study for the development of screening method for the teratogenic medicine using spina bifida model micePrincipal Investigator
- Principal Investigator
  
  SAKAI Norio
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Multiple approaches of the therapy for lysosomal diseases affected with central nervous systemPrincipal Investigator
- Principal Investigator
  
  SAKAI Norio, 乾幸治
- Project Period (FY)
  2001 – 2003
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
筋再生と線維化抑制をめざす筋ジストロフィー治療の試み
- Principal Investigator
  
  OKADA Shintaro
- Project Period (FY)
  2000 – 2001
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Research for the causative genes of the congenital abnormality using analysis of the action points of teratogenic factorsPrincipal Investigator
- Principal Investigator
  
  SAKAI Norio
- Project Period (FY)
  2000 – 2001
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University
Study of lysosomal storage disease-intracellular signaling and apoptosis
- Principal Investigator
  
  INUI Koji
- Project Period (FY)
  1999 – 2000
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Osaka University

All 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 Other

All Journal Article Presentation Patent

[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] Chemical chaperone treatment for galactosialidosis: Effect of NOEV on <beta>-galactosidase activities in fibroblasts2015
- Author(s)
  Hossain AM
- Journal Title
  
  Brain Dev
  
  Volume: 38 Issue: 2 Pages: 175-180
- DOI
  10.1016/j.braindev.2015.07.006
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461525, KAKENHI-PROJECT-25461543
[Journal Article] Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.2014
- Author(s)
  Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N
- Journal Title
  
  Gene
  
  Volume: 534 Issue: 2 Pages: 144-54
- DOI
  10.1016/j.gene.2013.11.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461543
[Journal Article] Efficacy of deep brain stimulation in an adolescent patient with DYT11 myoclonus-dystonia2014
- Author(s)
  2.Kimura Y, Mihara M, Kawarai T, Kishima H, Sakai N, Takahashi M and Mochizuki H
- Journal Title
  
  Neurology and Clinical Neuroscience
  
  Volume: 2 Issue: 2 Pages: 57-59
- DOI
  10.1111/ncn3.75
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25461543, KAKENHI-PROJECT-26461294
[Journal Article] A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease.2013
- Author(s)
  Kardas F, Uzak AS, Hossain A, Sakai N, Canpolat M, Yıkılmaz A.
- Journal Title
  
  Gene
  
  Volume: 517 Issue: 1 Pages: 125-7
- DOI
  10.1016/j.gene.2012.12.040
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461543
[Journal Article] Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts2012
- Author(s)
  Otomo T, Hossain MA, Ozono K, Sakai N.
- Journal Title
  
  Mol Genet Metab
  
  Volume: 105(2) Pages: 266-269
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Pathology of the first autopsy case diagnosed as mucolipidosis type IIIα/βsuggesting autophagic dysfunction2011
- Author(s)
  Kobayashi H, Takahashi-Fujigasaki J, Fukuda T, Sakurai K, Shimada Y, Nomura K, Ariga M, Ohashi T, Eto Y, Otomo T, Sakai N, Ida H.
- Journal Title
  
  Mol Genet Metab
  
  Volume: 102(2) Pages: 170-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction.2011
- Author(s)
  Kobayashi H, (8), Otomo T, Sakai N, Ida H.
- Journal Title
  
  Mol Genet Metab.
  
  Volume: 102 Pages: 170-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy : the importance of metabolic autopsy and expanded newborn screening2011
- Author(s)
  Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R.
- Journal Title
  
  Mol Genet Metab
  
  Volume: 102(4) Pages: 399-406
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Retrospective review of Japanese sudden unexpected death in infancy : The importance of metabolic autopsy and expanded newborn screening2011
- Author(s)
  Yamamoto T, (7), Sakai N, Kuroki H, Yamaguchi S, Matoba R
- Journal Title
  
  Mol Genet Metab
  
  Volume: 102(4)(In press) Pages: 399-406
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts2011
- Author(s)
  Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.
- Journal Title
  
  J Biol Chem
  
  Volume: 286(40) Pages: 35283-35290
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts2010
- Author(s)
  Terao M, Sakai N, Higashiyama S, Kotobuki Y, Tanemura A, Wataya-Kaneda M, Yutsudo M, Ozono K, Katayama I.
- Journal Title
  
  Br J Dermatol
  
  Volume: 163(4) Pages: 881-884
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts2010
- Author(s)
  Terao M, Sakai N, (7)
- Journal Title
  
  Br J Dermatol.
  
  Volume: 163 Pages: 881-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts2009
- Author(s)
  Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.
- Journal Title
  
  Mol Genet Metab
  
  Volume: 98(4) Pages: 485-487
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Mucolipidosis II and III alpha/ beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation2009
- Author(s)
  Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, Ohura T, Yoshino M, Tanaka A, Okamoto N, Inui K, Ozono K, Sakai N.
- Journal Title
  
  J Hum Genet
  
  Volume: 54(3) Pages: 145-151
- NAID
  10030729556
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591322
[Journal Article] Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone2008
- Author(s)
  Shimotori, M, Maruyama, H, Sakai, N(9), Gejyo, F(31)
- Journal Title
  
  Hum Mutat 29
  
  Pages: 331-40
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.2008
- Author(s)
  Shimotori M, Maruyama H, Sakai N(9), Gejyo F(31)
- Journal Title
  
  Hum Mutat 29
  
  Pages: 331-40
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] Involvement of nuclear factor I transcription/replication factor in the early stage of chondrocytic differentiation.2007
- Author(s)
  Uchihashi T, Kimata M, Tachikawa K, Koshimizu T, Okada T, Ihara-Watanabe M, Sakai N, Kogo M, Ozono K, Michigami T
- Journal Title
  
  Bone 41
  
  Pages: 1025-35
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] Involvement of nuclear factor I transcription/replication factor in the early stage of chondrocytic differentiation2007
- Author(s)
  Uchihashi, T, Kimata, M, Tachikawa, K, Koshimizu, T, Okada, T, Ihara-Watanabe, M, Sakai, N, Kogo, M, Ozono, K, Michigami, T
- Journal Title
  
  Bone 41
  
  Pages: 1025-35
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease2006
- Author(s)
  Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.
- Journal Title
  
  Brain Dev 28(6)
  
  Pages: 60-62
- NAID
  10017319316
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Novel mutation of gene coding for glial fibrillary acidic protein in a Jananese patient with Alexander disease2006
- Author(s)
  Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.
- Journal Title
  
  Brain Dev 28(6)
  
  Pages: 60-62
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Characterization of the sensitivity of lymphoblastoid cell lines to various stress agents in Roberts syndrome2006
- Author(s)
  Gordillo M, Vega H, Sakai N, Tsukamoto H, Ozono K, Inui K
- Journal Title
  
  Med J Osaka Univ 49(1-4)
  
  Pages: 29-41
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] The luminal domain participates in the endosomal trafficking of the cation-independent mannose 6-phosphate receptor2006
- Author(s)
  Waguri S, Tomiyama Y, Ikeda H, Hida T, Sakai N, Taniike M, Ebisu S, Uchiyama Y
- Journal Title
  
  Exp Cell Res 312 (20)
  
  Pages: 4090-4107
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.2006
- Author(s)
  Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.
- Journal Title
  
  Brain Dev. 28
  
  Pages: 60-62
- NAID
  10017319316
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] The luminal domain participates in the endosomal trafficking of the cation-independent mannose 6-phosphate receptor.2006
- Author(s)
  Waguri S, Tomiyama Y, Ikeda H, Hida T, Sakai N, Taniike M, et al.
- Journal Title
  
  Exp Cell Res 312・20
  
  Pages: 4090-4107
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease2006
- Author(s)
  Kawai, M, Sakai, N. et al.(8)
- Journal Title
  
  Brain Dev 28・1
  
  Pages: 60-62
- NAID
  10017319316
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease2006
- Author(s)
  Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.
- Journal Title
  
  Brain Dev 28.6
  
  Pages: 60-62
- NAID
  10017319316
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.2006
- Author(s)
  Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K.
- Journal Title
  
  Brain Dev 28・1
  
  Pages: 60-62
- NAID
  10017319316
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] Characterization of the sensitivity of lymphoblastoid cell lines to various stress agents in Roberts syndrome2006
- Author(s)
  Gordillo M, Vega H, Sakai N, Tsukamoto H, Ozono K, Inui K
- Journal Title
  
  Med J Osaka Univ 49(1-4)
  
  Pages: 29-41
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.2006
- Author(s)
  Xu C, Sakai N, Taniike M, et al.
- Journal Title
  
  J Hum Genet 51・6
  
  Pages: 548-554
- NAID
  10017608409
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.2006
- Author(s)
  Xu C, Sakai N, Taniike M, Inui K, Ozono K.
- Journal Title
  
  J Hum Genet. 51
  
  Pages: 548-554
- NAID
  10017608409
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease2006
- Author(s)
  Kawai M, Sakai N, Miyake S, Tsukamoto H, Akagi M, Inui K, Mushiake S, Taniike M, Ozono K
- Journal Title
  
  Brain Dev 28(1)
  
  Pages: 60-62
- NAID
  10017319316
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] The luminal domain participates in the endosomal trafficking of the cation-independent mannose 6- phosphate receptor.2006
- Author(s)
  Waguri S, Tomiyama Y, Ikeda H, Hida T, Sakai N, Taniike M, Ebisu S, Uchiyama Y.
- Journal Title
  
  Exp Cell Res. 312
  
  Pages: 4090-107
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] Six novel mutations detected in GALC gene in 17 Japanese patients with Krabbe disease and new genotype-phenotype correlation2006
- Author(s)
  Xu C, Sakai N, Taniike M, Inui, Ozono K
- Journal Title
  
  J Hum Genet 51(6)
  
  Pages: 548-554
- NAID
  10017608409
- Data Source
  KAKENHI-PROJECT-18591150
[Journal Article] Related Articles, Links, Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation2005
- Author(s)
  Sangkhathat S, Kusafuka T, Yoneda, A, Kuroda S, Tanaka M, Sakai N, Fukuzawa M.
- Journal Title
  
  Pediatr Sure Int 21(9)
  
  Pages: 745-748
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion2005
- Author(s)
  Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H.
- Journal Title
  
  Nat Genet 37.5
  
  Pages: 468-470
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.2005
- Author(s)
  Takahashi K, Kogaki S, Kurotobi S, Nasuno S, Ohta M, Okabe H, Wada K, Sakai N, Taniike M, Ozono K.
- Journal Title
  
  Eur J Pediatr. 164
  
  Pages: 497-500
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591085
[Journal Article] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion2005
- Author(s)
  Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenie H.
- Journal Title
  
  Nat Genet 37(5)
  
  Pages: 468-470
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Related Articles, Links, Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation2005
- Author(s)
  Sangkhathat S, Kusafuka T, Yoneda A, Kuroda S, Tanaka M, Sakai N, Fukuzawa M.
- Journal Title
  
  Pediatr Surg Int 21.9
  
  Pages: 745-748
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Enzyme replacement therapy in Japanese Fabry disease patients : the results of a phase 2 bridging study2005
- Author(s)
  Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, Sakai N, Kitagawa T, Suzuki Y, Mochizuki S, Kawakami M, Hosoya T, Owada M, Sakuraba H, Saito H.
- Journal Title
  
  J Inherit Metab Dis 28.4
  
  Pages: 575-583
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion2005
- Author(s)
  Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H.
- Journal Title
  
  Nat Genet 37(5)
  
  Pages: 468-470
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Enzyme replacement therapy in Japanese Fabry disease patients : the results of phase 2 bridging study2005
- Author(s)
  Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, Sakai N, Kitagawa T, Suzuki Y, Mochizuki S, Kawakami M, Hosoya T, Owada M, Sakuraba H, Saito H.
- Journal Title
  
  J Inherit Metab Dis 28(4)
  
  Pages: 575-583
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation2005
- Author(s)
  Sangkhathat S, Kusafuka T, Yoneda A, Kuroda S, Tanaka M, Sakai N, Fukuzawa M.
- Journal Title
  
  Pediatr Surg Int 21(9)
  
  Pages: 745-748
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Enzyme replacement therapy in Japanese Fabry diseas patients : the results of a phase 2 bridging study2005
- Author(s)
  Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K, Sakai N, Kitagawa T, Suzuki Y, Mochizuki S, Kawakami M, Hosoya T, Owada M, Sakuraba H, Saito H.
- Journal Title
  
  J Inherit Metab Dis 28(4)
  
  Pages: 575-583
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Involvement of phosphoinositide 3-kinase signaling pathway in chondrocytic differentiation of ATDC5 cells : Application of a gene-trap mutagenesis.2004
- Author(s)
  Ihara-Watanabe M, Uchihashi T, Miyauchi Y, Sakai N, et al.
- Journal Title
  
  J Cell Biochem 93(2)
  
  Pages: 418-426
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] In Vivo Studies of Phenylalanine Hydroxylase by Phenylalanine Breath Test : Diagnosis of Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency.2004
- Author(s)
  Okano Y, Hase Y, Kawajiri M, Nishi Y, Inui K, Sakai N, et al.
- Journal Title
  
  Pediatr Res. 56
  
  Pages: 714-719
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis2004
- Author(s)
  Chikara Kokubu Ulrich Heinzmann2, Tomoko Kokubu, Norio Sakai, et al.
- Journal Title
  
  Development 131(21)
  
  Pages: 5469-5480
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Analysis of recombinant human saposin A expressed by Pichia pastoris.2004
- Author(s)
  Yamada M, Inui K, Hamada D, Nakahira K, Yanagihara K, Sakai N et al.
- Journal Title
  
  Biochem Biophys Res Commun 318(2)
  
  Pages: 588-593
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Characterization of the sensitivity of lymphoblastoid cell lines to various stress agents in Roberts syndrome
- Author(s)
  Gordillo M, Vega H, Sakai N.Tsukamoto H, Ozono K, Inui K
- Journal Title
  
  Med J Osaka Univ in press
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Characterization of the sensitivity of lymphoblastoid cell lines to various stress agents in Roberts syndrome
- Author(s)
  Gordillo M, Vega H, Sakai N, Tsukamoto H, Ozono K, Inui K
- Journal Title
  
  Med J Osaka Univ in press
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Six novel mutations detected in GALC gene in 17 Japanese patients with Krabbe disease and new genotype-phenotype correlation
- Author(s)
  Xu C, Sakai N, Taniike M, Inui K, Ozono K
- Journal Title
  
  J Hum Genet in press
- NAID
  10017608409
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Six novel mutations detected in GALC gene in 17 Japanese patients with Krabbe disease and new genotype-phenotype correlation
- Author(s)
  Xu C, Sakai N, Taniike M, Inui, Ozono K
- Journal Title
  
  J Hum Genet (in press)
- NAID
  10017608409
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591026
[Journal Article] Six novel mutations detected in GALC gene in 17 Japanese patients with Krabbe disease and new genotype-phenotype correlation
- Author(s)
  Xu C, Sakai N, Taniike M, Inui, Ozono K
- Journal Title
  
  J Hum Genet in press
- NAID
  10017608409
- Data Source
  KAKENHI-PROJECT-16591026
[Patent] リソソーム病治療用医薬組成物2011
- Inventor(s)
  大薗恵一,酒井規夫,大友孝信
- Industrial Property Rights Holder
  大阪大学
- Filing Date
  2011-04-28
- Data Source
  KAKENHI-PROJECT-21591322
[Patent] リソソーム病治療用医薬組成物2011
- Inventor(s)
  大薗恵一、酒井規夫、大友孝信
- Industrial Property Rights Holder
  大阪大学
- Industrial Property Number
  2011-101560
- Filing Date
  2011-04-28
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] Krabbe 病患者の病型は 2 つの変異の COS7 細胞での発現実験における galactocerebrosidase 活性の総和と相関する2015
- Author(s)
  苛原香, 大友孝信, 近藤秀仁, 濱田悠介, Hossain Mohammad Arif, 大薗恵一 , 酒井規夫
- Organizer
  第 57 回日本先天代謝異常学会総会
- Place of Presentation
  大阪国際会議場、大阪府大阪市
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-25461543
[Presentation] Outcomes of hematopoietic stem cell transplantation for three patients with metachromatic leukodystrophy2013
- Author(s)
  Michiko Shinpo, Sayaka Nakano, Yusuke Hamada, Kouji Tominaga, Shin Nabatame, Takeshi Okinaga, Yoshiko Hashii, Norio Sakai, Keichi Ozono
- Organizer
  ACIMD
- Place of Presentation
  Makuhari
- Data Source
  KAKENHI-PROJECT-25461543
[Presentation] NOEV treatment option for Japanese Krabbe disease2013
- Author(s)
  Mohammad Arif Hossain1, Katsumi Higaki2, Eiji Nanba2, Yoshiyuki Suzuki3, Keiichi Ozono1, Norio Sakai1
- Organizer
  ACIMD
- Place of Presentation
  Makuhari
- Data Source
  KAKENHI-PROJECT-25461543
[Presentation] CHAPERONE THERAPY FOR KRABBE DISEASE; JAPANESE LATE-ONSET MUTATIONS CAN BE TREATED EFFECTIVELY BY NOEV2013
- Author(s)
  Hossain MA1, Higaki K2, Nanba E2, Suzuki Y3, Ozono K1, Sakai N
- Organizer
  ICIEM2013
- Place of Presentation
  Barcelona, Spain
- Data Source
  KAKENHI-PROJECT-25461543
[Presentation] ゴーシェ病I型に対する酵素補充療法の長期経過について2011
- Author(s)
  酒井規夫、濱田悠介、大友孝信、乾幸治、大薗恵一
- Organizer
  第16回日本ライソゾーム病研究会
- Place of Presentation
  東京
- Year and Date
  2011-09-29
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] In vitro transient experiment for the common mutations of Krabbe disease in Japan2011
- Author(s)
  ホセインモハンマドアリフ、大友孝信、濱田悠介、赤木幹弘、大薗恵一、酒井規夫
- Organizer
  第53回日本先天代謝異常学会学術集会
- Place of Presentation
  千葉
- Year and Date
  2011-11-24
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 全国遺伝子医療部門におけるホームページに関する実態調査報告2011
- Author(s)
  小巻正泰, 酒井規夫, 金川武司, 大友孝信, 濱田悠介, 國府力, 佐藤友紀, 吉津紀久子, 西田千夏子, 市村沙希, 野口眞三郎
- Organizer
  遺伝医学合同学術集会2011
- Place of Presentation
  京都
- Year and Date
  2011-06-17
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ミニレクチャー「ライソゾーム病の遺伝カウンセリング」2011
- Author(s)
  酒井規夫
- Organizer
  第7回近畿先天代謝異常症研究会
- Place of Presentation
  大阪
- Year and Date
  2011-06-04
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ピルビン酸脱水素酵素複合体欠損症患者に対する呼気ガス試験による診断の試み2011
- Author(s)
  濱田悠介、大友孝信、酒井規夫、大薗恵一、田中雅嗣
- Organizer
  第7回近畿先天代謝異常症研究会
- Place of Presentation
  大阪
- Year and Date
  2011-06-04
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 胆のう乳頭腫を呈した異染性白質ジストロフィーの2症例2011
- Author(s)
  濱田悠介、東純史、Mohammad Arif Hossain、正畠和典、大友孝信、曹秀樹、酒井規夫、大薗恵一
- Organizer
  第7回近畿先天代謝異常症研究会
- Place of Presentation
  大阪
- Year and Date
  2011-06-04
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] Screening of seven common mutations is effective to predict the phenotypes of Krabbe disease patients in Japan2011
- Author(s)
  Mohammad Arif Hossain, Takanobu Otomo, Yusuke Hamada, Motohiro Akagi, Keiichi Ozono, Norio Sakai
- Organizer
  ライソソーム病スクリーニング東京会議2011
- Place of Presentation
  東京
- Year and Date
  2011-08-05
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] Respiratory impairment and NPPV treatment in patients with late-onset Pompe disease receiving enzyme replacement therapy2011
- Author(s)
  Norio Sakai
- Organizer
  5th European Symposium on Steps Forward in Pompe Disease
- Place of Presentation
  Hungary
- Year and Date
  2011-12-02
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 非常に緩徐な神経学的進行を呈した副腎白質ジストロフィーの一症例2011
- Author(s)
  濱田悠介、中野さやか、新寶理子、東純史、大友孝信、富永康仁、下野九理子、沖永剛志、酒井規夫、大薗恵一
- Organizer
  第53回日本先天代謝異常学会学術集会
- Place of Presentation
  千葉
- Year and Date
  2011-11-25
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 大阪大学病院における電子カルテによる遺伝子情報管理の取り組み2011
- Author(s)
  佐藤友紀、酒井規夫、金川武司、大友孝信、濱田悠介、國府力、小巻正泰、吉津紀久子、西田千夏子、市村沙希、松村泰志、野口眞三郎
- Organizer
  遺伝医学合同学術集会2011
- Place of Presentation
  京都
- Year and Date
  2011-06-18
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコ多糖症II型の発達と発育に対する酵素補充療法の効果2011
- Author(s)
  濱田悠介、中野さやか、新寶理子、東純史、大友孝信、富永康仁、下野九理子、沖永剛志、酒井規夫、大薗恵一
- Organizer
  第53回日本先天代謝異常学会学術集会
- Place of Presentation
  千葉
- Year and Date
  2011-11-24
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 多彩な症状を呈したOPA1異常症の兄妹例2011
- Author(s)
  濱田悠介、林真貴子、豊田健太郎、下野九理子、沖永剛志、酒井規夫、大薗恵一、松下賢治、阿部暁子、早坂清
- Organizer
  第53回日本先天代謝異常学会学術集会
- Place of Presentation
  千葉
- Year and Date
  2011-11-25
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコリピドーシスII型(I-cell disease)細胞におけるゲニステインの効果について2011
- Author(s)
  大友孝信、大薗恵一、酒井規夫
- Organizer
  第53回日本先天代謝異常学会学術集会
- Place of Presentation
  千葉
- Year and Date
  2011-11-24
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコリピドーシスII型・III型に対する新しい治療法の開発(2)酵素補充療法による治療効果2011
- Author(s)
  大友孝信、檜垣克美、難波栄二、大薗恵一、酒井規夫
- Organizer
  第53回日本先天代謝異常学会学術集会
- Place of Presentation
  千葉
- Year and Date
  2011-11-24
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコリピドーシスII型・III型に対する新しい治療法の開発(1)全ライソゾーム酵素補充法の確立2011
- Author(s)
  大友孝信、檜垣克美、難波栄二、大薗恵一、酒井規夫
- Organizer
  第53回日本先天代謝異常学会学術集会
- Place of Presentation
  千葉
- Year and Date
  2011-11-24
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 後期乳児型異染性白質ジストロフィーに対する造血幹細胞移植の効果について2011
- Author(s)
  酒井規夫、濱田悠介、Mohammad Arif Hossain、大友孝信、大薗恵一
- Organizer
  第16回日本ライソゾーム病研究会
- Place of Presentation
  東京
- Year and Date
  2011-09-29
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] Patients with Krabbe disease in Japan : phenotype and treatment2011
- Author(s)
  N Sakai, A Hossain, T Otomo, Y Hamada, T Okinaga, H Ohta, K Ozono
- Organizer
  10th International Symposium on Lysosomal Storage Diseases
- Place of Presentation
  Spain
- Year and Date
  2011-04-01
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 骨髄移植を受けたI-cell病患者の長期予後2010
- Author(s)
  渡邊順子、大平智子、加藤俊一、矢部普正、酒井規夫、大友孝信、芳野信
- Organizer
  第15回日本ライソゾーム病研究会
- Place of Presentation
  東京
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 日本人クラッベ病の表現型の分布と新生児マススクリーニングを含めた診断/治療ガイドライン2010
- Author(s)
  酒井規夫
- Organizer
  第15回日本ライソゾーム病研究会
- Place of Presentation
  東京
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] シンポジウム2;先天性代謝異常症マス・スクリーニングのこれから、マス・スクリーニングにおける遺伝カウンセリング2010
- Author(s)
  酒井規夫
- Organizer
  第52回日本先天代謝異常学会総会
- Place of Presentation
  大阪
- Year and Date
  2010-10-23
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ピルビン酸脱水素酵素複合体欠損症患者に対するピルビン酸療法開始前後での呼気ガス試験による評価2010
- Author(s)
  濱田悠介、大友孝信、酒井規夫、田中雅嗣、大薗恵一
- Organizer
  第52回日本先天代謝異常学会総会
- Place of Presentation
  大阪
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 小児期発症Wilson病13例における酢酸亜鉛製剤の有用性について2010
- Author(s)
  長谷川泰浩、池田佳世、橘真紀子、山田寛之、清原由起、近藤宏樹、三善陽子、酒井規夫、大薗恵一
- Organizer
  第52回日本先天代謝異常学会総会
- Place of Presentation
  大阪
- Year and Date
  2010-10-21
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] Distribution of the Clinical Phenotype of Krabbe Disease in Japan2010
- Author(s)
  ホセインモハンマトアリフ、大友孝信、濱田悠介、赤木幹弘、大薗恵一、酒井規夫
- Organizer
  第52回日本先天代謝異常学会総会
- Place of Presentation
  大阪
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] AUTOPHAGIC IMPAIRMENT IN MUCOLIPIDOSIS II AND III SKIN FIBROBLASTS2010
- Author(s)
  Otomo T, Higaki K, Nanba E, Ozono K, Sakai N
- Organizer
  SSIEM
- Place of Presentation
  Turkey
- Year and Date
  2010-09-01
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコリピドーシスII型の皮膚線維芽細胞ではライソゾームの成熟異常とpH上昇を来している2010
- Author(s)
  大友孝信、檜垣克美、難波栄二、大薗恵一、酒井規夫
- Organizer
  第52回日本先天代謝異常学会総会
- Place of Presentation
  大阪
- Year and Date
  2010-10-21
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 日本人PKAN症例の遺伝子解析2010
- Author(s)
  赤木幹弘、豊島光雄、山村なつみ、鈴木保宏、Hossain Arif、濱田悠介、大友孝信、酒井規夫、大薗恵一
- Organizer
  第52回日本先天代謝異常学会総会
- Place of Presentation
  大阪
- Year and Date
  2010-10-21
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコ多糖症II型における造血幹細胞移植の中枢神経系への効果について(多施設共同研究)2010
- Author(s)
  田中あけみ, 酒井規夫, 奥山虎之, 鈴木康之, 澤田智, 大橋十也, 大浦敏博, 麦島秀雄, 田中藤樹, 大友孝信
- Organizer
  第52回日本小児神経学会総会
- Place of Presentation
  横浜
- Year and Date
  2010-05-20
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコ多糖症II型に対する造血幹細胞移植の効果に関する多施設共同調査研究ムコ多糖症II型造血細胞移植研究グループ、Efficacy of Hematopoietic Stem Cell Transplantation(HSCT) on the Patients with Mucopolysaccharidosis Type II : Multicenter Study, Study Group of HSCT for MPS II2010
- Author(s)
  高倉広充, 矢部普正, 麦島秀雄, 加藤剛二, 鈴木信寛, 足立壮一, 小林良二, 大浦敏博, 田中あけみ, 奥山虎之, 田中藤樹, 鈴木康之, 酒井規夫, 大橋十也, 加藤俊一
- Organizer
  第32回日本造血細胞移植学会総会
- Place of Presentation
  浜松
- Year and Date
  2010-02-20
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 臍帯血幹細胞移植を施行したHunter症候群の中枢神経系における組織学的検討2009
- Author(s)
  新谷研、酒井規夫、毛利育子、下野九理子、沖永剛史、橋井佳子、太田秀明、谷池雅子、大薗恵一
- Organizer
  第51回日本先天代謝異常学会総会
- Place of Presentation
  東京
- Year and Date
  2009-11-06
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 乳児期早期のSturge Weber症候群における患側大脳白質の髄鞘化促進の可能性:画像的及び病理学的検討2009
- Author(s)
  新谷研, 森田祥子, 北井征宏, 富永康仁, 下野九理子, 沖永剛志, 毛利育子, 酒井規夫, 谷池雅子, 大薗恵一
- Organizer
  第51回日本小児神経学会総会
- Place of Presentation
  米子
- Year and Date
  2009-05-29
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 頭蓋骨早期癒合症を合併したMucolipidosisIII型の1例2009
- Author(s)
  折居恒治, 酒井規夫, 大友孝信, 折居忠夫, 三浦良介, 寺澤厚志, 岩井明日香, 伊藤玲子, 今村淳
- Organizer
  第51回日本小児神経学会総会
- Place of Presentation
  米子
- Year and Date
  2009-05-29
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコリピドーシスII型/ III型の皮膚線維芽細胞におけるオートファジーの解析2009
- Author(s)
  大友孝信、檜垣克美、難波栄二、大薗恵一、酒井規夫
- Organizer
  第51回日本先天代謝異常学会総会
- Place of Presentation
  東京
- Year and Date
  2009-11-05
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ハンター病5例の酵素補充療法の経験2009
- Author(s)
  酒井規夫、濱田悠介、富永康仁、沖永剛史、大薗恵一
- Organizer
  第五回近畿先天代謝異常症研究会
- Place of Presentation
  大阪
- Year and Date
  2009-06-06
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] ムコリピドーシスII型/III型の皮膚線維芽細胞におけるオートファジーの解析2009
- Author(s)
  大友孝信, 檜垣克美, 難波栄二, 大薗恵一, 酒井規夫
- Organizer
  第51回日本先天代謝異常学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] リソソーム病の診断と治療法の最前線-蓄積病を疑うべきとき-2009
- Author(s)
  酒井規夫
- Organizer
  小児成長研究会
- Place of Presentation
  東京
- Year and Date
  2009-07-25
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] シンポジウム;先天性代謝異常症の遺伝カウンセリング、「副腎白質ジストロフィーの遺伝カウンセリング」2009
- Author(s)
  酒井規夫
- Organizer
  第51回日本先天代謝異常学会総会
- Place of Presentation
  東京
- Year and Date
  2009-11-06
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] 胎児期より多発奇形を指摘されていたピルビン酸脱水素酵素欠損症の1例2009
- Author(s)
  山崎早苗、甲斐明彦、高尾大士、井石倫弘、笹野衣里、木下大介、西川嘉英、隅清彰、酒井規夫
- Organizer
  第51回日本先天代謝異常学会総会
- Place of Presentation
  東京
- Year and Date
  2009-11-07
- Data Source
  KAKENHI-PROJECT-21591322
[Presentation] Mutation analysis of GNPTAB gene in 24 Japanese Mucolipidosis II and III patients.2007
- Author(s)
  Otomo T, Muramatsu T, Inui K, Yorifuji T, Nakabayashi H, Ohura T, Yoshino M, Tanaka A, Okuyama T, Ozono K, sakai N
- Organizer
  SSIEM 2007 Annual symposium,
- Place of Presentation
  Germany, Hamburg
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18591150
[Presentation] Mutation analysis of GNPTAB gene in 24 Japanese Mucolipidosis II and III patients.2007
- Author(s)
  Otomo T, Sakai N(11)
- Organizer
  SSIEM 2007 Annual symposium,
- Place of Presentation
  Hamburg、ドイツ
- Data Source
  KAKENHI-PROJECT-18591150
[Presentation] Mutation analysis of GNPTAB gene in 24 Japanese Mucolipidosis II and III patients2007
- Author(s)
  Otomo, T, Muramatsu, T, Inui, K, Yorifuji, T, Nakabayashi, H, Ohura, T, Yoshino, M, Tanaka, A, Okuyama, T, Ozono, K, Sakai, K
- Organizer
  SSIEM 2007 Annual symposium
- Place of Presentation
  Germany, Hamburg
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591150
[Presentation] クラッベ病に対するケミカルシャペロン
- Author(s)
  酒井規夫、ホセイン　モハマッド・A
- Organizer
  第５９回日本人類遺伝学会
- Place of Presentation
  船堀
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25461543
[Presentation] Chemical chaperone treatment for galactosialidosis: chaperone effect of NOEVon β-galactosidase activities in galactosialidosis fibroblasts
- Author(s)
  M A Hossain, K Higaki, M Shinpo, E Nanba, Y Suzuki, M Alfadhel, K Ozono, N Sakai
- Organizer
  SSIEM
- Place of Presentation
  ウイーン、オーストリア
- Year and Date
  2014-09-02 – 2014-09-05
- Data Source
  KAKENHI-PROJECT-25461543

1. TANIIKE Masako (30263289)

# of Collaborated Projects: 4 results

# of Collaborated Products: 18 results
2. INUI Koji (90175208)

# of Collaborated Projects: 4 results

# of Collaborated Products: 0 results
3. OKADA Shintaro (30028609)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
4. TSUKAMOTO Hiroko (50263281)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. WADA Kazuko (30294094)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
6. OKINAGA Takeshi (30362734)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. OZONO Keiichi (20270770)

# of Collaborated Projects: 1 results

# of Collaborated Products: 12 results
8. ARAHORI Hitomi (40379186)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. 島雅昭 (10252660)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 本多智佳 (40625498)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 冨澤理恵 (20584551)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 渡邉幹夫 (50294088)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 矢野裕一朗 (10586241)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 岡本玲子 (60269850)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. 田中美帆 (20893746)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. 福田雅樹 (30580211)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 古藤雄大 (80808858)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. 能登真一 (00339954)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. 成田綾 (10569271)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. 大橋敦 (40340674)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. 津島智子 (51011473)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
22. 新家一輝 (90547564)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
23. 佐藤寿哲 (90614082)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
24. 平野慎也

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

Sakai Norio 酒井 規夫

酒井 規夫 サカイ ノリオ

SAKAI Norio 酒井 規夫

酒井 則夫 サカイ ノリオ

Research Projects

Research Products

Co-Researchers

Development and implementation of comprehensive evaluation package using patient-reported outcomes with inherited metabolic disorders and their families

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Basic Research for Longitudinal Child Abuse Risk Assessment and System Development from Prenatal Period Using AI

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Collaboration and comparison on twin analysis of genomic/epigenomic information and common diseases: Hungary and Japan

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Study for autophagy in lysosomal diseases and development of drug screeningPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Mucolipidosis ; Pathological analysis and development of therapyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Analysis of the Molecular Pathology for the Salidonmide SyndromePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Prostaglandin D_2 is a key molecule for neuroinflammation in the demyelinating diseases

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Study for the development of screening method for the teratogenic medicine using spina bifida model micePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Multiple approaches of the therapy for lysosomal diseases affected with central nervous systemPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

筋再生と線維化抑制をめざす筋ジストロフィー治療の試み

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Research for the causative genes of the congenital abnormality using analysis of the action points of teratogenic factorsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Study of lysosomal storage disease-intracellular signaling and apoptosis

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.2015

Sakai Norio 酒井規夫

酒井規夫サカイノリオ

SAKAI Norio 酒井規夫

酒井則夫サカイノリオ