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MURAKAMI YOSHIKO  村上 良子

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… Alternative Names

村上 良子  ムラカミ ヨシコ

MURAKAMI Yoshiko  村上 良子

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Researcher Number 00304048
Other IDs
Affiliation (Current) 2025: 大阪大学, 微生物病研究所, 特任教授
Affiliation (based on the past Project Information) *help 2021 – 2023: 大阪大学, 微生物病研究所, 特任教授
2018: 大阪大学, 微生物病研究所・籔本難病解明寄附研究部門, 教授
2009 – 2016: 大阪大学, 微生物病研究所, 准教授
2007: Osaka University, Research Institute for Microbial Diseases, Assistant Professor
2005 – 2006: Osaka University, Research Institute for Microbial Diseases, Research Associate, 微生物病研究所, 助手 … More
2004: 大阪大学, 微生物病研究所, 教務職員
2003: 大阪大学, 教務職員
2002: Osaka University, Research Institute for Microbial Diseases, Technical Official, 微生物病研究所, 教務職員
2001: 大阪大学, 微生物病研究所, 教務技官
1999 – 2000: 大阪大学, 微生物病研究所, 教務職員 Less
Review Section/Research Field
Principal Investigator
Hematology / Basic Section 43030:Functional biochemistry-related / Biological Sciences / Pathological medical chemistry
Except Principal Investigator
Structural biochemistry / Functional biochemistry / Basic Section 43020:Structural biochemistry-related / Pediatrics / Biological Sciences
Keywords
Principal Investigator
PNH / GPI / Ras / HMGA2 / ビタミンB6 / GPIアンカー / 高アルカリホスファターゼ血症 / 発作性夜間ヘモグロビン尿症 / 高アルカリフォスファターゼ血症 / 精神運動発達障害 … More / てんかん / 先天性GPI欠損症 / ARV1 / グリコシルホスファチジルイノシトール / NアセチルグルコサミンPI / PIGQ / ホスファチジルイノシトール(PI) / ビタミンB1 / PIGA / clonal expansion / GPI アンカー / ビタミンB6 / ビタミンB1 / アルカリホスファターゼ / regulation of expression / carbohydrate / signal transduction / cells and tissues / genes / 発現制御 / 糖鎖 / シグナル伝達 / 細胞・組織 / 遺伝子 / Eri1p / Eri1 / RhoA / PIG-Y / Erilp / 乳児早期てんかん性脳症 / GPIアンカー型蛋白質 / 精神発達遅滞 / 深部静脈血栓症 / 溶血性貧血 / 補体制御因子 … More
Except Principal Investigator
GPIアンカー / 小胞体 / 生合成 / endoplasmic reticulum / GPI anchor / 糖転移酵素 / 翻訳後修飾 / 糖鎖 / 酵素 / 遺伝子 / グリコシルホスファチジルイノシトール / 活性化葉酸 / 先天性GPIアンカー欠損症 / てんかん / ピリドキシン / 先天性GPI欠損症 / raft / de-acylation / remodeling / transport / GPI-anchor / ラフト / 脱アシル化 / リモデリング / 輸送 / N結合型糖質 / 脂質 / 細胞・組織 / gene cloning / biosynthesis / glycolipid / post trarnslational modification / 塘脂質 / 遺伝子クローニング / 糖脂質 / post translational modification / 生合成経路 / GIPアンカー / 糖質 / タンパク質 Less
  • Research Projects

    (13 results)
  • Research Products

    (113 results)
  • Co-Researchers

    (17 People)
  •  GPI生合成と脂質合成に関わるARV1の機能の解明Principal Investigator

    • Principal Investigator
      村上 良子
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 43030:Functional biochemistry-related
    • Research Institution
      Osaka University
  •  Mechanisms for regulation of glycosylphosphatidylinositol biosynthesis

    • Principal Investigator
      Kinoshita Taroh
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 43020:Structural biochemistry-related
    • Research Institution
      Osaka University
  •  Analysos of metabolic abnormality which causes clonal expansion in Paroxysmal nocturnal hemoglobinuriaPrincipal Investigator

    • Principal Investigator
      Murakami Yoshiko
    • Project Period (FY)
      2015 – 2016
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Hematology
    • Research Institution
      Osaka University
  •  Devlopment of diagnostic marker and new treatment for inherited glycosylphosphatidylinositol anchored protein deficiency

    • Principal Investigator
      KOJI TOMINAGA
    • Project Period (FY)
      2015 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Osaka University
  •  先天性GPI欠損症の疾患概念の確立と発症機序の解明Principal Investigator

    • Principal Investigator
      村上 良子
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Osaka University
  •  Analysis for the molecular mechanism of Inheited GPI DeficiencyPrincipal Investigator

    • Principal Investigator
      MURAKAMI Yoshiko
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pathological medical chemistry
    • Research Institution
      Osaka University
  •  Molecular mechanisms and functions of structural changes of protein GPI-anchors

    • Principal Investigator
      KINOSHITA Taroh
    • Project Period (FY)
      2009 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Functional biochemistry
    • Research Institution
      Osaka University
  •  Investigation of the mechanism for clonal expansion of GPI negative cells in paroxysmal nocturnal hemoglobinuriaPrincipal Investigator

    • Principal Investigator
      MURAKAMI Yoshiko
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Hematology
    • Research Institution
      Osaka University
  •  The regulation of functions and expressions of proteins by glycosylphosphatidylinositol-anchor

    • Principal Investigator
      MAEDA Yusuke
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Functional biochemistry
    • Research Institution
      Osaka University
  •  Investigation into the mechanism for expansion of abnormal clone in paroxysmal nocturnal hemoglobinuriaPrincipal Investigator

    • Principal Investigator
      MURAKAMI Yoshiko
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Hematology
    • Research Institution
      Osaka University
  •  GPIアンカー合成の調節機構と合成不全症

    • Principal Investigator
      木下 タロウ
    • Project Period (FY)
      2002 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Osaka University
  •  Biosynthesis pathway of GPI anchored proteins.

    • Principal Investigator
      KINOSHITA Taroh
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Structural biochemistry
    • Research Institution
      Osaka University
  •  Mechanism of biosynthesis of protein GPI anchors.

    • Principal Investigator
      KINOSHITA Taroh
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (B).
    • Research Field
      Structural biochemistry
    • Research Institution
      OSAKA UNIVERSITY

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All Journal Article Presentation Book

  • [Book] Annual Review 血液 2008 先天性と後天性GPI欠損症2008

    • Author(s)
      村上良子、木下タロウ
    • Publisher
      中外医学者
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Book] 先天性GPI欠損症 分子細胞治療 vol.7 no.12008

    • Author(s)
      村上良子、木下タロウ
    • Publisher
      先端医学社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Book] 先天性と後天性GPI欠損症 Annual Review 血液2008

    • Author(s)
      村上良子、木下タロウ
    • Publisher
      中外医学社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Book] Diseases associated with GPI anchors. In Comprehensive Glycoscience.2007

    • Author(s)
      Kinoshita, T., Y. Murakami and Y. S. Morita.
    • Publisher
      Elsevier Ltd. , Amsterdam.
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Book] 発作性夜間血色素尿症を代表とするGPI病、実験医学増刊 糖鎖研究 vol.25 No.72007

    • Author(s)
      村上良子、木下タロウ
    • Publisher
      羊土社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Book] PNHクローン拡大の自己免疫反応による選択、最新・内科シリーズ Vision, 212007

    • Author(s)
      村上良子
    • Publisher
      株式会社 インターメディカ
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Book] 実験医学 糖鎖研究 発作性夜間血色素尿症を代表とするGPI病2007

    • Author(s)
      村上良子、木下タロウ
    • Publisher
      羊土社
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse models2024

    • Author(s)
      Murakami Yoshiko、Umeshita Saori、Imanishi Kae、Yoshioka Yoshichika、Ninomiya Akinori、Sunabori Takehiko、Likhite Shibi、Koike Masato、Meyer Kathrin C.、Kinoshita Taroh
    • Journal Title

      Molecular Therapy - Methods & Clinical Development

      Volume: 32 Issue: 1 Pages: 101176-101176

    • DOI

      10.1016/j.omtm.2023.101176

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K06323, KAKENHI-PROJECT-21H02415
  • [Journal Article] Accumulated precursors of specific GPI-anchored proteins upregulate GPI biosynthesis with ARV1.2023

    • Author(s)
      Liu, Y.-S., Y. Wang, X. Zhou, L. Zhang, X.-D. Gao, Y. Murakami, M. Fujita and T. Kinoshita.
    • Journal Title

      J. Cell Biol.

      Volume: 222 Issue: 5 Pages: 1-20

    • DOI

      10.1083/jcb.202208159

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K05695, KAKENHI-PROJECT-21H02415
  • [Journal Article] Sequential hydrolysis of FAD by ecto-5′ nucleotidase CD73 and alkaline phosphatase is required for uptake of vitamin B2 into cells2022

    • Author(s)
      Shichinohe Natsuki、Kobayashi Daisuke、Izumi Ayaka、Hatanaka Kazuya、Fujita Rio、Kinoshita Taroh、Inoue Norimitsu、Hamaue Naoya、Wada Keiji、Murakami Yoshiko
    • Journal Title

      Journal of Biological Chemistry

      Volume: 298 Issue: 12 Pages: 102640-102640

    • DOI

      10.1016/j.jbc.2022.102640

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21H02415
  • [Journal Article] Ethanolamine‐phosphate on the second mannose is a preferential bridge for some GPI‐anchored proteins2022

    • Author(s)
      Ishida Mizuki、Maki Yuta、Ninomiya Akinori、Takada Yoko、Campeau Philippe、Kinoshita Taroh、Murakami Yoshiko
    • Journal Title

      EMBO reports

      Volume: 23 Issue: 7

    • DOI

      10.15252/embr.202154352

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21H02415
  • [Journal Article] Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis2022

    • Author(s)
      Wang Yicheng、Menon Anant K.、Maki Yuta、Liu Yi-Shi、Iwasaki Yugo、Fujita Morihisa、Guerrero Paula A.、Silva Daniel Varon、Seeberger Peter H.、Murakami Yoshiko、Kinoshita Taroh
    • Journal Title

      Proceedings of the National Academy of Sciences

      Volume: 119 Issue: 14 Pages: 7211-7211

    • DOI

      10.1073/pnas.2115083119

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21H02415, KAKENHI-WRAPUP-22H04899
  • [Journal Article] Rescue of Glycosylphosphatidylinositol-Anchored Protein Biosynthesis Using Synthetic Glycosylphosphatidylinositol Oligosaccharides2021

    • Author(s)
      Guerrero Paula A.、Murakami Yoshiko、Malik Ankita、Seeberger Peter H.、Kinoshita Taroh、Varon Silva Daniel
    • Journal Title

      ACS Chemical Biology

      Volume: 16 Issue: 11 Pages: 2297-2306

    • DOI

      10.1021/acschembio.1c00465

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21H02415
  • [Journal Article] Differential use of p24 family members as cargo receptors for the transport of glycosylphosphatidylinositol-anchored proteins and Wnt12021

    • Author(s)
      Tashima Yuko、Hirata Tetsuya、Maeda Yusuke、Murakami Yoshiko、Kinoshita Taroh
    • Journal Title

      The Journal of Biochemistry

      Volume: 171 Issue: 1 Pages: 75-83

    • DOI

      10.1093/jb/mvab108

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21H02415
  • [Journal Article] phenotypes from infantile lethality to mild learning difficulties2017

    • Author(s)
      Tanigawa J, Mimatsu H, Mizuno S, Okamoto N, Fukushi D, Tominaga K, Kidokoro H, Muramatsu Y, Nishi E, Nakamura S, Motooka D, Nomura N, Hayasaka K, Niihori T, Aoki Y, Nabatame S, Hayakawa M, Natsume J, Ozono K, Kinoshita T, Wakamatsu N, Murakami Y
    • Journal Title

      Human Mutation

      Volume: 印刷中 Issue: 7 Pages: 805-815

    • DOI

      10.1002/humu.23219

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PUBLICLY-15H01578, KAKENHI-PROJECT-26461543, KAKENHI-PROJECT-26462225, KAKENHI-PROJECT-15K09618, KAKENHI-PROJECT-17K10070, KAKENHI-PROJECT-16K15534
  • [Journal Article] 知的障害とてんかんを主症状とする新しい疾患―先天性GPI欠損症2015

    • Author(s)
      村上良子 木下タロウ
    • Journal Title

      脳と発達誌

      Volume: 47 Pages: 5-13

    • NAID

      130005005752

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Journal Article] Mutations in PIGL in a patient with Mabry syndrome.2015

    • Author(s)
      Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.
    • Journal Title

      Am J Med Genet A.

      Volume: in press Issue: 4 Pages: 777-785

    • DOI

      10.1002/ajmg.a.36987

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25461535, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26830064, KAKENHI-PROJECT-15K15024, KAKENHI-PROJECT-26293059
  • [Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features2014

    • Author(s)
      Kato M, Saitsu H, Murakami Y , Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
    • Journal Title

      Neurology

      Volume: 82(18) Issue: 18 Pages: 1587-1596

    • DOI

      10.1212/wnl.0000000000000389

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.2014

    • Author(s)
      Murakami, Y., H. Tawamie, Y. Maeda, C, Buttner, R. Buchert, F. Radwan, S. Schaffer, H. Sticht, M. Aigner, A. Reis, T. Kinoshita and R. A. Jamra.
    • Journal Title

      PLoS Genet.

      Volume: 10 Issue: 5 Pages: e1004320-e1004320

    • DOI

      10.1371/journal.pgen.1004320

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Journal Article] Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.2014

    • Author(s)
      Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, and Murakami Y.
    • Journal Title

      J Med Genet.

      Volume: 51 Issue: 3 Pages: 203-207

    • DOI

      10.1136/jmedgenet-2013-102156

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363, KAKENHI-PROJECT-24501336, KAKENHI-PUBLICLY-25129705
  • [Journal Article] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.2014

    • Author(s)
      Nakamura, K.Osaka, H.Murakami, Y.Anzai, R.Nishiyama, K.Kodera, H.Nakashima, M.Tsurusaki, Y.Miyake, N.Kinoshita, T.Matsumoto, N. and Saitsu, H
    • Journal Title

      Epilepsia

      Volume: 55 Issue: 2 Pages: 13-17

    • DOI

      10.1111/epi.12508

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915, KAKENHI-PROJECT-26860816
  • [Journal Article] Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.2014

    • Author(s)
      Martin, H. C., G. Kim, A. T. Pagnamenta, Y. Murakami, et al
    • Journal Title

      Hum. Mol. Genet.

      Volume: 23 Issue: 12 Pages: 3200-3211

    • DOI

      10.1093/hmg/ddu030

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy2014

    • Author(s)
      Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H .
    • Journal Title

      Neurogenet

      Volume: 15(2) Issue: 2 Pages: 85-92

    • DOI

      10.1007/s10048-013-0384-7

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
  • [Journal Article] Mutations in PGAP3 impair GPI-anchor maturation and lead to intellectual disability with hyperphosphatasia and additional phenotypic features.2014

    • Author(s)
      Howard MF* Murakami Y* Pagnamenta AT, Haas CD, Fischer B, Hecht J, Keays DA, Knight SJL, Kolsch U, Kruger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Philipps JA, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, and Krawitz PM. (*equally contribution)
    • Journal Title

      Am J Hum Genet

      Volume: 94 Issue: 2 Pages: 278-287

    • DOI

      10.1016/j.ajhg.2013.12.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363, KAKENHI-PUBLICLY-25129705
  • [Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 32014

    • Author(s)
      Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
    • Journal Title

      Neurogenet

      Volume: 15(3) Issue: 3 Pages: 193-200

    • DOI

      10.1007/s10048-014-0408-y

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25293085, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860874, KAKENHI-PROJECT-25860915
  • [Journal Article] Case report with vitamin B6 responsive epilepsy due to inherited GPI deficiency.2013

    • Author(s)
      Kuki, I., Y. Takahashi, Okazaki, Ebara, N. Inoue, T. Kinoshita and Y. Murakami.
    • Journal Title

      Neurology

      Volume: 81 Issue: 16 Pages: 1467-1469

    • DOI

      10.1212/wnl.0b013e3182a8411a

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363, KAKENHI-PROJECT-24501336, KAKENHI-PUBLICLY-25129705
  • [Journal Article] Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability2013

    • Author(s)
      Hirata, T., M. Fujita, N. Kanzawa, Y. Murakami, Y. Maeda and T. Kinoshita
    • Journal Title

      J. Bio chem

      Volume: 154 Issue: 3 Pages: 257-264

    • DOI

      10.1093/jb/mvt045

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018, KAKENHI-PROJECT-23687017, KAKENHI-PROJECT-25860238
  • [Journal Article] Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability2013

    • Author(s)
      Hansen, L. Tawamie, H. Murakami, Y. Mang, Y. Ur Rehman, S. Buchert, R. Schaffer, S. Muhammad, S. Bak, M. Nothen, M. M. Bennett, E. P. Maeda, Y. Aigner, M. Reis, A. Kinoshita, T. et al.
    • Journal Title

      Am J Hum Genet

      Volume: 92(4) Issue: 4 Pages: 575-583

    • DOI

      10.1016/j.ajhg.2013.03.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363, KAKENHI-PUBLICLY-25129705
  • [Journal Article] A case of paroxysmal nocturnal hemoglobinuria (PNH) caused by a germline mutation and a somatic mutation in PIGT2013

    • Author(s)
      Krawitz, P. M., B. Hochsmann, Y. Murakami, B. Teubner, U. Kruger, E. Klopocki, H. Neitzel, A. Hollein, D. Parkhomchuk, J. Hecht, P. N. Robinson, S. Mundlos, T. Kinoshita and H. Schrezenmeier
    • Journal Title

      Blood

      Volume: 122 Issue: 7 Pages: 1312-1315

    • DOI

      10.1182/blood-2013-01-481499

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018, KAKENHI-PROJECT-23590363
  • [Journal Article] PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome2013

    • Author(s)
      Krawitz, P. M. Murakami, Y. Riess, A. Hietala, M. Kruger, U. Zhu, N. Kinoshita, T. Mundlos, S. Hecht, J. Robinson, P. N. Horn, D.
    • Journal Title

      Am J Hum Genet

      Volume: 92(4) Issue: 4 Pages: 584-589

    • DOI

      10.1016/j.ajhg.2013.03.011

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363, KAKENHI-PUBLICLY-25129705
  • [Journal Article] Significance of GPI-anchored protein enrichment in lipid rafts for the control of autoimmunity2013

    • Author(s)
      Wang, Y., Y. Murakami, T. Yasui, S. Wakana, H. Kikutani, T. Kinoshita and Y. Maeda
    • Journal Title

      J. Biol. Chem

      Volume: 288 Issue: 35 Pages: 25490-25499

    • DOI

      10.1074/jbc.m113.492611

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018, KAKENHI-PROJECT-23370060, KAKENHI-PROJECT-24590550
  • [Journal Article] Occupancy of whole blood cells by a single PIGA-mutant clone with HMGA2 amplification in a paroxysmal nocturnal haemoglobinuria patient having blood cells with NKG2D ligands2013

    • Author(s)
      Hanaoka, N., Y. Murakami, M. Nagata, K. Horikawa, S. Nagakura, Y. Yonemura, S. Murata, T. Sonoki, T. Kinoshita, H. Nakakuma
    • Journal Title

      Br. J. Haematol.

      Volume: 160 Issue: 1 Pages: 114-116

    • DOI

      10.1111/bjh.12093

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363, KAKENHI-PROJECT-23791087
  • [Journal Article] Deregulated expression of HMGA2 is implicated in clonal expansion of PIGA deficient cells in paroxysmal nocturnal haemoglobinuria.2012

    • Author(s)
      Murakami Y, Inoue N, Shichishima T, Ohta R, Noji H, Maeda Y, Nishimura J, Kanakura Y, Kinoshita T.
    • Journal Title

      Br J Haematol.

      Volume: 156 Pages: 383-387

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Journal Article] Deregulated expression of HMGA2 is implicated in clonal expansion of PIGA deficient cells in paroxysmal nocturnal haemoglobinuria2012

    • Author(s)
      Murakami, Y., N. Inoue, T. Shichishima, R. Ohta, H. Noji, Y. Maeda, J. Nishimura, Y. Kanakura and T. Kinoshita
    • Journal Title

      Br. J. Haematol

      Volume: 156 Issue: 3 Pages: 383-387

    • DOI

      10.1111/j.1365-2141.2011.08914.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018, KAKENHI-PROJECT-21590326, KAKENHI-PROJECT-22390194, KAKENHI-PROJECT-22591044, KAKENHI-PROJECT-22591067, KAKENHI-PROJECT-22791813, KAKENHI-PROJECT-23590363
  • [Journal Article] Mutations in PIGO, a member of the GPI anchor synthesis pathway, cause hyperphosphatasia with mental retardation2012

    • Author(s)
      Krawitz, P. M., Y. Murakami, J. Hecht, U. Kruger, S. E. Holder, G. R. Mortier, B. delle Chiaie, M. D. Thompson, T. Roscioli, S. Kielbasa, T. Kinoshita, S. Mundlos, P. N. Robinson and D. Horn
    • Journal Title

      Am. J. Hum. Genet

      Volume: 91 Issue: 1 Pages: 146-151

    • DOI

      10.1016/j.ajhg.2012.05.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018, KAKENHI-PROJECT-23590363
  • [Journal Article] Persistently high quality of life conferred by coexisting congenital deficiency of terminal complement C9 in a paroxysmal nocturnal hemoglobinuria patient.2012

    • Author(s)
      Hanaoka N, Murakami Y, Nagata M, Nagakura S, Yonemura Y, Sonoki T, Kinoshita T, Nakakuma H.
    • Journal Title

      Blood

      Volume: 119(16) Issue: 16 Pages: 3866-3868

    • DOI

      10.1182/blood-2012-02-408161

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363, KAKENHI-PROJECT-23791087
  • [Journal Article] Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia-mental retardation syndrome2012

    • Author(s)
      Murakami, Y., N. Kanzawa, K. Saito, P. M. Krawitz, S. Mundlos, P. N. Robinson, A. Karadimitris, Y. Maeda and T. Kinoshita
    • Journal Title

      J. Biol. Chem

      Volume: 287 Issue: 9 Pages: 6318-6325

    • DOI

      10.1074/jbc.m111.331090

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018, KAKENHI-PROJECT-23590363, KAKENHI-PROJECT-23790365
  • [Journal Article] Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.2012

    • Author(s)
      Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T.
    • Journal Title

      J Biol Chem.

      Volume: 287 Pages: 6318-6325

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Journal Article] Enhanced response of T lymphocytes from Pgap3 knockout mouse : Insight into roles of fatty acid remodeling of GPI anchored proteins2012

    • Author(s)
      Murakami, H., Y. Wang, H. Hasuwa, Y. Maeda, T. Kinoshita and Y. Murakami
    • Journal Title

      Biochem. Biophys. Res. Comm

      Volume: 417 Issue: 4 Pages: 1235-1241

    • DOI

      10.1016/j.bbrc.2011.12.116

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Journal Article] Enhanced response of T lymphocytes from Pgap3 knockout mouse : Insightinto roles of fatty acid remodeling of GPI anchored proteins2012

    • Author(s)
      Murakami, H.
    • Journal Title

      Biochem.Biophys.Res.Comm.

      Volume: 417 Pages: 1235-1241

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Journal Article] Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome and rhizomelic chondrodysplasia punctata2012

    • Author(s)
      Kanzawa, N., et al.
    • Journal Title

      Journal of Lipid Research

      Volume: 53 Issue: 4 Pages: 653-663

    • DOI

      10.1194/jlr.m021204

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-19058011, KAKENHI-PROJECT-21247018, KAKENHI-PROJECT-21591318, KAKENHI-PROJECT-23790365, KAKENHI-PROJECT-24247038, KAKENHI-PROJECT-24390261
  • [Journal Article] Controlled expression of branch-forming mannosyltransferase is critical for mycobacterial lipoarabinomannan biosynthesis2010

    • Author(s)
      Sena, C. B., T. Fukuda, K. Miyanagi, S. Matsumoto, K. Kobayashi, Y. Murakami, Y. Maeda, T. Kinoshita and Y. S. Morita
    • Journal Title

      J. Biol. Chem

      Volume: 285 Issue: 18 Pages: 13326-13336

    • DOI

      10.1074/jbc.m109.077297

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Journal Article] Peroxisome dependency of alkyl-containing GPI-anchor biosynthesis in the endoplasmic reticulum2009

    • Author(s)
      Kanzawa, N., Y. Maeda, H. Ogiso, Y. Murakami, R. Taguchi, and T. Kinoshita
    • Journal Title

      Proc. Natl. Acad. Sci. USA

      Volume: 106 Issue: 42 Pages: 17711-17716

    • DOI

      10.1073/pnas.0904762106

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Journal Article] Research in Japan has contributed to the understanding of GPI anchor deficiency2007

    • Author(s)
      Murakami, Y., T., Kinoshita
    • Journal Title

      In Glycoscience Lab Manual. Ed., Springer, Tokyo

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] (* equally contributed) Targeted therapy for inherited GPI deficiency2007

    • Author(s)
      Almeida, A M., Y., Murakami, A., Baker, Y., Maeda, I., A G., Roberts, T., Kinoshita, D M., Layton, A., Karadimitris
    • Journal Title

      N. Engl. J. Med 356

      Pages: 1641-1647

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] Targeted Therapy for Inherited GPI Deficiency2007

    • Author(s)
      Almeida, A. M., *Y. Murakami*, A. Baker, Y. Maeda, I. A. G. Roberts, T. Kinoshita, D. M. Layton, and A. Karadimitris.(*equally contributed)
    • Journal Title

      N Engl J Med. 356・16

      Pages: 1641-1647

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] Molecular basis of clonal expansion of hematopoiesis in two patients with paroxysmal nocturnal hemoglobinuria (PNH)2006

    • Author(s)
      Inoue, N., T., Izui-Sarumaru, Y., Murakami, Y., Endo, J., Nishimura, K., Kurokawa, M., Kuwayama, H., Shime, T., Machii, Y., Kanakura, G., Meyers, C., Wittwer, Z., Chen, W., Babcock, D., Frei-Lahr, C., Parker, T., Kinoshita
    • Journal Title

      Blood 108

      Pages: 4232-4236

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] The Initial Enzyme for Glycosylphosphatidylinositol Biosynthesis Requires PIG-Y, a Seventh Component.2006

    • Author(s)
      Murakami, Y.
    • Journal Title

      Mot.Biol.Cell 16

      Pages: 5236-5246

    • Data Source
      KAKENHI-PROJECT-14082205
  • [Journal Article] Molecular basis of clonal expansion. of hematopoiesis in two patients with paroxysmal nocturnal hemoglobinuria(PNH).2006

    • Author(s)
      Inoue, N., T. Izui-Sarumaru, Y. Murakami, Y. Endo, J. Nishimura, K. Kurokawa, M. Kuwayama, H. Shime, T. Machii, Y. Kanakura, G. Meyers, C. Wittwer, Z. Chen, W. Babcock, D. Frei-Lahr, C. Parker and T. Kinoshita.
    • Journal Title

      Blood 108・13

      Pages: 4232-4236

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] Hypomorphic promoter mutation in the mannosyltransfbrase-encoding PIG-M gene causes inherited glycosylphosphatidylinositol deficiency.2006

    • Author(s)
      Almeida, A., *Y. Murakami*, M. Layton, P. Hillmen, G. S. Sellick, Y. Maeda, S. Richards, S. Patterson, I. Kotsianidis, L. Mollica, D. Crawford, A. Baker, M. Ferguson, I. Roberts, R. Houlston, T. Kinoshita and A. Karadimitris.(*equally contributed)
    • Journal Title

      Nat. Med., 12

      Pages: 846-851

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] (*equally contributed) Hypomorphic promoter mutation in the mannosyltransferase-encoding PIG-Mgene causes inherited glycosylphosphatidylinositol deficiency2006

    • Author(s)
      Almeida, A., Y., Murakami, M., Layton, P., Hillmen, G S., Sellick, Y., Maeda, S., Richards, S., Patterson, I., Kotsianidis, L., Mollica, D., Crawford, A., Baker, M., Ferguson, I., Roberts, R., Houlston, T., Kinoshita, A., Karadimitris
    • Journal Title

      Nat. Med 12

      Pages: 846-851

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Journal Article] The Initial Enzyme for Glycosylphosphatidylinositol Biosynthesis Requires PIG-Y, a Seventh Component.2005

    • Author(s)
      Murakami, Y.
    • Journal Title

      Mol.Biol.Cell 16

      Pages: 5236-5246

    • Data Source
      KAKENHI-PROJECT-16570116
  • [Journal Article] The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.2005

    • Author(s)
      Yoshiko Murakami
    • Journal Title

      Mol.Biol.Cell 16

      Pages: 5236-5246

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16570116
  • [Journal Article] The Initial Enzyme for Glycosylphosphatidylinositol Biosynthesis Requires PIG-Y, a Seventh Component.2005

    • Author(s)
      Murakami, Y., et al.
    • Journal Title

      Mol Biol Cell. 16

      Pages: 5236-5246

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16570116
  • [Journal Article] The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.2005

    • Author(s)
      Murakami, Y.
    • Journal Title

      Mol.Biol.Cell 16

      Pages: 5236-5246

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16590940
  • [Journal Article] The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.2005

    • Author(s)
      Murakami, Y
    • Journal Title

      Mol. Biol. Cell. 16

      Pages: 5236-5246

    • Data Source
      KAKENHI-PROJECT-14082205
  • [Presentation] ARV1, an ER-resident lipid homeostasis regulator, associates with and enhances activity of the initial enzyme of GPI biosynthesis2023

    • Author(s)
      TianTian Lu, Yoshiko Murakami, Taroh Kinoshita
    • Organizer
      第96回日本生化学会大会
    • Data Source
      KAKENHI-PROJECT-23K05695
  • [Presentation] ARV1, an ER-resident lipid homeostasis regulator, associates with and enhances activity of the initial enzyme of GPI biosynthesis2023

    • Author(s)
      TianTian Lu, Yoshiko Murakami, Taroh Kinoshita
    • Organizer
      第42回日本糖質学会年会
    • Data Source
      KAKENHI-PROJECT-23K05695
  • [Presentation] 先天性GPIアンカー欠損症における血清ALP値の検討2017

    • Author(s)
      富永康仁 谷河純平 山下朋代 広恒実加 渡辺陽和 岩谷祥子 下野九理子 青天目信 村上良子 木下タロウ 永井利三郎 大薗恵一
    • Organizer
      第59回日本小児神経学会
    • Data Source
      KAKENHI-PROJECT-15K09618
  • [Presentation] 補体関連の遺伝子異常についてー補体制御因子の異常を中心にー2016

    • Author(s)
      村上良子
    • Organizer
      第68回日本臨床化学会近畿支部例会
    • Place of Presentation
      神戸常盤大学
    • Year and Date
      2016-07-09
    • Invited
    • Data Source
      KAKENHI-PROJECT-15K15362
  • [Presentation] Clinical spectrum of PIGO mutations2016

    • Author(s)
      谷河純平 村上良子 富永康仁 青天目信 見松はるか 城所博之 早川昌弘 水野誠司 若松延昭 岡本伸彦 夏目淳 木下タロウ 大薗恵一
    • Organizer
      第58回日本小児神経学会
    • Place of Presentation
      東京
    • Year and Date
      2016-06-03
    • Data Source
      KAKENHI-PROJECT-15K09618
  • [Presentation] Paroxysmal nocturnal hemoglobinuria caused by PIGT mutations; Atypical PNH2016

    • Author(s)
      Yoshiko Murakami, Michi Kawamoto, Norimitsu Inoue, Makiko Osato, Shogo Murata, Sho Murase, Hajime Yoshimura, Yasutaka Ueda, Jun-ichi Nishimura, Yuzuru Kanakura, Nobuo Kohara, and Taroh Kinoshita
    • Organizer
      The 58th ASH Annual Meeting
    • Place of Presentation
      San Diego
    • Year and Date
      2016-12-04
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K15362
  • [Presentation] 発作性夜間ヘモグロビン尿症2016

    • Author(s)
      村上良子
    • Organizer
      第78回日本血液学会学術集会
    • Place of Presentation
      パシフィコ横浜
    • Year and Date
      2016-10-13
    • Invited
    • Data Source
      KAKENHI-PROJECT-15K15362
  • [Presentation] Paroxysmal nocturnal hemoglobinuria caused by PIGT mutations; Atypical PNH2016

    • Author(s)
      Yoshiko Murakami, Norimitsu Inoue, Michi Kawamotoi, Nobuo Kohara, Taroh Kinoshita
    • Organizer
      The XXVI International Complement Workshop
    • Place of Presentation
      金沢
    • Year and Date
      2016-09-04
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K15362
  • [Presentation] 16年間延べ121回にわたる反復性無菌性髄膜炎にPIGT変異によるPNHを合併しEculizumabが著効した一例 その2 分子メカニズム2015

    • Author(s)
      村上良子
    • Organizer
      第52回日本補体学会学術集会
    • Place of Presentation
      名古屋大学医学部
    • Year and Date
      2015-08-21
    • Data Source
      KAKENHI-PROJECT-15K15362
  • [Presentation] Inherited GPI-anchor deficiencies caused by the hypomorphic mutations in PIGA gene: comparison to paroxysmal nocturnal hemogrobinuria2013

    • Author(s)
      Yoshiko Murakami, Mitsuhiro Kato, Hirotomo Saitsu, Kenjiro Kikuchi, Shuei, Watanabe, Mizue Iai, Ryuki Matsuura, Rumiko Takayama, Chihiro Ohba, Shin-ichiro Hamano, Hitoshi Osaka, Kiyoshi Hayasaka, Naomichi Matsumoto, Taroh Kinoshita
    • Organizer
      55^<th> ASH Annual Meeting and Exposition
    • Place of Presentation
      New Orleans, LA USA
    • Year and Date
      2013-12-09
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 精神発達遅滞・てんかんを主症状とする疾患2013

    • Author(s)
      村上良子、 井上徳光、 九鬼一郎、 高橋幸利、木下タロウ
    • Organizer
      第50回補体シンポジウム
    • Place of Presentation
      旭川医科大学
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 高アルカリフォスファターゼ血症を呈する先天性GPI欠損症–肢根型点状軟骨異形成症との関連についての最近の知見も含めて2013

    • Author(s)
      村上良子
    • Organizer
      第17回大阪小児骨系統疾患研究会
    • Place of Presentation
      大阪市
    • Year and Date
      2013-02-16
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 精神発達遅延・てんかんを主症状とする疾患:先天性GPI欠損症の疾患概念の確立に向けて2013

    • Author(s)
      村上良子、井上徳光、九鬼一郎、高橋幸利、木下タロウ
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      大分市
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症―発達障害・てんかんを主症状とする新たな疾患―2013

    • Author(s)
      村上良子
    • Organizer
      第7回南大阪遺伝診療研究会
    • Place of Presentation
      ホテル・アゴーラリージェンシー堺
    • Invited
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] Inherited GPI-anchor deficiencies caused by the hypomorphic mutations in PIGA gene: comparison to paroxysmal nocturnal hemogrobinuria2013

    • Author(s)
      Yoshiko Murakami
    • Organizer
      55th ASH Annual Meeting and Exposition
    • Place of Presentation
      米国ニューオリンズ市
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Presentation] Shedding of GPI-anchored proteins by a GPI-cleaving enzyme2013

    • Author(s)
      Morihisa Fujita, Gun-Hee Lee, Yoshiko Murakami, Yusuke Maeda, and Taroh Kinoshita
    • Organizer
      22nd International Symposium on Glycoconjugates
    • Place of Presentation
      大連 Dalian Institute of Chemical Physics
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症——発達障害・てんかんを主症状とする新たな疾患——2013

    • Author(s)
      村上良子
    • Organizer
      第7回南大阪遺伝診療研究会
    • Place of Presentation
      堺市
    • Year and Date
      2013-09-27
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 精神発達遅延・てんかんを主症状とする疾患:先天性GPI欠損症の疾患概念の確立に向けて2013

    • Author(s)
      村上良子, 井上徳光, 九鬼一郎, 高橋幸利, 木下タロウ
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      大分市
    • Year and Date
      2013-05-31
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 精神発達遅滞・てんかんを主症状とする疾患2013

    • Author(s)
      村上良子、 井上徳光、 九鬼一郎、 高橋幸利、木下タロウ
    • Organizer
      第50回補体シンポジウム
    • Place of Presentation
      旭川医科大学
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] Inherited GPI-anchor deficiencies caused by the hypomorphic mutations in PIGA gene: comparison to paroxysmal nocturnal hemogrobinuria2013

    • Author(s)
      Yoshiko Murakami, Mitsuhiro Kato, Hirotomo Saitsu, Kenjiro Kikuchi, Shuei, Watanabe, Mizue Iai, Ryuki Matsuura, Rumiko Takayama, Chihiro Ohba, Shin-ichiro Hamano, Hitoshi Osaka, Kiyoshi Hayasaka, Naomichi Matsumoto, Taroh Kinoshita,
    • Organizer
      55th ASH Annual Meeting and Exposition
    • Place of Presentation
      New Orleans, LA USA
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 精神発達遅延・てんかんを主症状とする疾患:先天性GPI欠損症の疾患概念の確立に向けて2013

    • Author(s)
      村上良子、井上徳光、九鬼一郎、高橋幸利、木下タロウ
    • Organizer
      第55回日本小児神経学会学術集会
    • Place of Presentation
      大分市
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] GPIアンカー生合成に関与する遺伝子群の解析2013

    • Author(s)
      藤田盛久, 中村昇太, 平田哲也, 村上良子, 前田裕輔, 木下タロウ
    • Organizer
      第86回日本生化学会大会
    • Place of Presentation
      横浜市
    • Year and Date
      2013-09-12
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 精神発達遅滞・てんかんを主症状とする疾患2013

    • Author(s)
      村上良子, 井上徳光, 九鬼一郎, 高橋幸利, 木下タロウ
    • Organizer
      第50回補体シンポジウム
    • Place of Presentation
      旭川市
    • Year and Date
      2013-07-06
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] Inherited GPI-anchor deficiencies caused by the hypomorphic mutations in PIGA gene: comparison to paroxysmal nocturnal hemogrobinuria2013

    • Author(s)
      Yoshiko Murakami, Mitsuhiro Kato, Hirotomo Saitsu, Kenjiro Kikuchi, Shuei, Watanabe, Mizue Iai, Ryuki Matsuura, Rumiko Takayama, Chihiro Ohba, Shin-ichiro Hamano, Hitoshi Osaka, Kiyoshi Hayasaka, Naomichi Matsumoto, Taroh Kinoshita,
    • Organizer
      55th ASH Annual Meeting and Exposition
    • Place of Presentation
      New Orleans, LA USA.
    • Invited
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] GPIアンカー生合成に関与する遺伝子群の解析2013

    • Author(s)
      藤田盛久、中村昇太、平田哲也、村上良子、前田裕輔、木下タロウ
    • Organizer
      第86回日本生化学会大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 藤田盛久、中村昇太、平田哲也、村上良子、前田裕輔、木下タロウ2013

    • Author(s)
      平田哲也、 藤田盛久、村上良子、前田裕輔、木下タロウ
    • Organizer
      第86回日本生化学会大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症ー発達障害・てんかんを主症状とする新たな疾患2013

    • Author(s)
      村上良子
    • Organizer
      第7回南大阪遺伝診療研究会
    • Place of Presentation
      ホテル・アゴーラリージェンシー堺
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症—てんかん・発達障害を主症状とする新たな疾患概念の確立2012

    • Author(s)
      村上良子
    • Organizer
      第78回大阪小児神経懇話会
    • Place of Presentation
      大阪市
    • Year and Date
      2012-06-28
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 先天性GPI欠損症 -疾患概念の確立に向けて-2012

    • Author(s)
      村上良子、井上徳光、高橋幸利、木下タロウ
    • Organizer
      第35回分子生物学会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 発作性夜間血色素尿症におけるGPI欠損細胞の拡大機序について2012

    • Author(s)
      村上良子、井上徳光、金倉譲、西村純一、木下タロウ
    • Organizer
      第49回補体シンポジウム
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 先天性GPI欠損症てんかん・発達障害を主症状とする新たな疾患2012

    • Author(s)
      村上良子
    • Organizer
      関西ディスモルフォロジー研究会
    • Place of Presentation
      大阪市
    • Year and Date
      2012-09-01
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] Screening patients with inherited GPI anchor deficiency to establish concept of the new disease.2012

    • Author(s)
      Yoshiko Murakami
    • Organizer
      XXIV International Complement Workshop
    • Place of Presentation
      ギリシャ国ハニア市
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Presentation] GPI アンカー型タンパク質の切断に関与する新規酵素の機能解析2012

    • Author(s)
      藤田盛久, 李 健熺, 村上良子, 前田裕 輔, 木下タロウ
    • Organizer
      第31回日本糖質学会年会
    • Place of Presentation
      鹿児島市民文化ホール
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Presentation] Screening patients with inherited GPI anchor deficiency to establish concept of the new disease2012

    • Author(s)
      Yoshiko Murakami, Norimitsu Inoue, Yusuke Maeda, Yukitoshi Takahashi, Taroh Kinoshita
    • Organizer
      XXIV International Complement Workshop
    • Place of Presentation
      クレタ島ギリシャ
    • Year and Date
      2012-10-12
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] Screening patients with inherited GPI anchor deficiency to establish concept of the new disease2012

    • Author(s)
      Yoshiko Murakami, Norimitsu Inoue, Yusuke Maeda, Yukitoshi Takahashi, Taroh Kinoshita
    • Organizer
      XXIV International Complement Workshop
    • Place of Presentation
      クレタ島 ギリシャ
    • Year and Date
      2012-10-12
    • Data Source
      KAKENHI-PROJECT-21247018
  • [Presentation] Screening patients with inherited GPI anchor deficiency to establish concept of the new disease2012

    • Author(s)
      Yoshiko Murakami, Norimitsu Inoue, Yusuke Maeda, Yukitoshi Takahashi and Taroh Kinoshita
    • Organizer
      XXIV International Complement Workshop
    • Place of Presentation
      Chania, Greece
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 先天性GPI欠損症-疾患概念の確率に向けて—Screening patients with inhierited GPI anchor deficiency to establish cincept of the new disease2012

    • Author(s)
      村上良子, 井上徳光, 高橋幸利, 木下タロウ
    • Organizer
      第35回日本分子生物学会年会
    • Place of Presentation
      福岡市
    • Year and Date
      2012-12-12
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 補体研究:基礎から臨床へ発作性夜間血色素尿症をはじめとするGPI欠損症について2011

    • Author(s)
      村上良子, 井上徳光, 七島勉, 太田里永子, 野地秀義, 前田裕輔, 西村純一, 木下タロウ
    • Organizer
      第48回補体シンポジウム
    • Place of Presentation
      名古屋市(特別企画シンポジウム)
    • Year and Date
      2011-09-02
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 発作性夜間血色素尿症をはじめとするGPI欠損症について2011

    • Author(s)
      村上良子、太田里永子、井上徳光、木下タロウ
    • Organizer
      第48回補体シンポジウム「補体研究:基礎から臨床へ」(招待講演)
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] Release of alkaline phosphatase caused by PIGV mutations in patients with Hyperphosphatasia-Mental Retardation syndrome (HPMR), a recently found second inherited GPI anchor deficiency2011

    • Author(s)
      Yoshiko Murakami, Peter M. Krawitz, Peter N. Robinson, Stefan Mundlos, Noriyuki Kanzawa, Yusuke Maeda, Taroh Kinoshita
    • Organizer
      Glyco 21 (21th International Symposium on Glyconjugates)
    • Place of Presentation
      ウィーン, オーストリア
    • Year and Date
      2011-08-22
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] Release of alkaline phosphatase caused by PIGVmutations in patients with Hyperphosphatasia-Mental Retardation syndrome (HPMR), recently found second inherited GPI anchor deficiency.2011

    • Author(s)
      Murakami,Y., Krawitz, PM., Robinson, PN, Mundlos, S., Maeda Y., and Kinoshita,T.
    • Organizer
      Glyco 21
    • Place of Presentation
      ウィーン
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 遺伝性GPIアンカー欠損症と治療について2007

    • Author(s)
      村上良子、前田裕輔、Antonio Almeida、Anastasios Karadimitris、木下タロウ
    • Organizer
      第44回補体シンポジウム
    • Place of Presentation
      平塚市
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] 遺伝性GPIアンカー欠損症と治療について2007

    • Author(s)
      村上良子
    • Organizer
      第44回 補体シンポジウム
    • Place of Presentation
      東海大学 松前記念館
    • Year and Date
      2007-08-24
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] 遺伝性GPIアンカー欠損症2006

    • Author(s)
      木下タロウ、村上良子、前田裕輔、Antonio Almeida、 Anastasios Karadimitris
    • Organizer
      第43回補体シンポジウム
    • Place of Presentation
      福岡
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] A point mutation in an Spl binding motif in the promoter of the mannosyltransferase-encoding PIG-Mgene causes inherited glycosylphosphatidylinositol deficiency2006

    • Author(s)
      Yoshiko, Murakami, Antonio, Almeida, Mark, Layton, Peter, Hillmen, Yusuke, Maeda, Anastasios, Karadimitris, Taroh, Kinoshita
    • Organizer
      XXIth International Complement Workshop
    • Place of Presentation
      Beijing China
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] 遺伝性GPIアンカー欠損症の2家系2006

    • Author(s)
      村上良子、前田裕輔、木下タロウ
    • Organizer
      第68回日本血液学会総会 第48回日本臨床血液学会合同総会
    • Place of Presentation
      福岡
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] A point mutation in an Sp1 binding motif in the promoter of the mannosyltransferase-encoding PIG-M gene causes inherited glycosylphosphatidylinositol deficiency.2006

    • Author(s)
      Yoshiko Murakami, Antonio Almeida, Mark Layton, Peter Hillmen, Yusuke Maeda, Anastasios Karadimitris and Taroh Kinoshita
    • Organizer
      XXIth International Complement Workshop
    • Place of Presentation
      Beijing China
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] A point mutation in an Sp1 binding motif in the promoter of the mannosyltransferase-encoding PIG-M gene causes inherited glycosylphosphatid ylinositol deficiency.2006

    • Author(s)
      Yoshiko Murakami, Antonio Almeida, Mark Layton, Peter Hillmen, Yusuke Maeda, Anastasios Karadimitris and Taroh Kinoshita
    • Organizer
      20th IUBMB International Congress
    • Place of Presentation
      Kyoto
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] A point mutation in an Spl binding motif in the promoter of the mannosyltransferase-encoding PIG-M gene causes inherited glycosylphosphatidylinositol deficiency2006

    • Author(s)
      Yoshiko, Murakami, Antonio, Almeida, Mark, Layton, Peter, Hillmen, Yusuke, Maeda, Anastasios, Karadimitris, Taroh Kinoshita
    • Organizer
      20th IUBMB International Congress
    • Place of Presentation
      Kyoto
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591060
  • [Presentation] 先天性GPI欠損症:知的障害・てんかんを呈する新しい疾患

    • Author(s)
      村上良子
    • Organizer
      第118回日本小児科学会学術集会
    • Place of Presentation
      大阪国際会議場
    • Year and Date
      2015-04-17 – 2015-04-19
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症:てんかん・知的障害を主症状とする新しい疾患

    • Author(s)
      村上良子
    • Organizer
      第57回日本小児神経学会学術集会
    • Place of Presentation
      帝国ホテル 大阪
    • Year and Date
      2015-05-28 – 2015-05-30
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症について

    • Author(s)
      村上良子
    • Organizer
      第51回補体シンポジウム
    • Place of Presentation
      神戸常磐大学
    • Year and Date
      2014-08-22 – 2014-08-23
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症―てんかん・発達障害を主症状とする新たな疾患概念の確立―

    • Author(s)
      村上良子
    • Organizer
      第78回大阪小児神経懇話会
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] GPIアンカー型蛋白質構造異常を原因とする先天性GPI欠損症-PGAP1欠損症とPGAP3欠損症

    • Author(s)
      村上良子
    • Organizer
      第87回日本生化学会大会
    • Place of Presentation
      国立京都国際会館
    • Year and Date
      2014-10-15 – 2014-10-18
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] GPIアンカー型タンパク質の構造異常を原因とする先天性GPI欠損症-PGAP1欠損症とPGAP3欠損症-

    • Author(s)
      村上良子
    • Organizer
      第56回日本小児神経学会学術集会
    • Place of Presentation
      アクトシティー浜松
    • Year and Date
      2014-05-28 – 2014-05-31
    • Data Source
      KAKENHI-PUBLICLY-25129705
  • [Presentation] 先天性GPI欠損症ーてんかん・発達障害を主症状とする新たな疾患-

    • Author(s)
      村上良子
    • Organizer
      第60回関西ディスモルフォロジー研究会
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-23590363
  • [Presentation] 先天性GPI欠損症―てんかん・発達障害を主症状とする新たな疾患概念の確立―

    • Author(s)
      村上良子
    • Organizer
      第17回大阪小児骨系統疾患研究会
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-23590363
  • 1.  KINOSHITA Taroh (10153165)
    # of Collaborated Projects: 10 results
    # of Collaborated Products: 64 results
  • 2.  MAEDA Yusuke (00294124)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 9 results
  • 3.  MORITA Yasuhiro (70397769)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 1 results
  • 4.  NAGAMUNE Kisaburo (90314418)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 5.  OHISHI Kazuhito (60273702)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 6.  INOUE Norimitsu (80252708)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 2 results
  • 7.  FUJITA Morihisa (30532056)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 8.  Nishimura Junichi (80464246)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 9.  KOJI TOMINAGA (20599245)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 10.  TANIGAWA JUNPEI (40768636)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 11.  芦田 久 (40379087)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 12.  青天目 信 (30570072)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 13.  岩谷 祥子 (60724903)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 14.  TANAKA Kiyoji
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 15.  松本 直通
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 3 results
  • 16.  小池 正人
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 17.  城所 博之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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