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2010 Fiscal Year Final Research Report

Basic research for clinical treatment of neuropathic Gaucher disease by chemical chhaperones

Research Project

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Project/Area Number 20390297
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTottori University

Principal Investigator

OHNO Kousaku  Tottori University, 医学部, 教授 (70112109)

Co-Investigator(Renkei-kenkyūsha) SUGIURA Titose  鳥取大学, 医学部・附属病院, 講師 (90325027)
INOUE Takehiko  鳥取大学, 医学部・附属病院, 助教 (80346361)
Project Period (FY) 2008 – 2010
Keywordsゴーシェ病 / シャペロン / 経口治療薬 / モデルマウス / リソゾーム
Research Abstract

There are no effective treatment for neurological manifestations in Gaucher disease. We found N-octyl-β-valienamine (NOV) could increase the protein level and enzyme activity of F213I mutant GBA in culture cells. We have tried to establish a model mouse expressing F213I protein, but failed to establish the mice. The NOV effects on normal mice were evaluated. No adverse effect was observed and GBA activity increased with increasing NOV dose in tissues. We also found new compounds, bicyclic nojirimycin analogues, show a chemical chaperone activity on mutant GBAs.

  • Research Products

    (20 results)

All 2011 2010 2009 2008

All Journal Article (9 results) (of which Peer Reviewed: 8 results) Presentation (9 results) Patent(Industrial Property Rights) (2 results) (of which Overseas: 2 results)

  • [Journal Article] Chemical chaperone therapy : chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.2011

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

      Human Mutation. in press

    • Peer Reviewed
  • [Journal Article] The effect of N-octyl-β-valienamine on β-glucosidase activity in tissues of normal mice.2010

    • Author(s)
      Luan Z, Ninomiya H, Ohno K, Ogawa S, Kubo T, Iida M, Suzuki Y.
    • Journal Title

      Brain Dev 32(10)

      Pages: 805-809

    • Peer Reviewed
  • [Journal Article] A fluorescent SP2-iminosugar with pharmacological chaperone activity for Gaucher disease : Cellular uptake and intracellular distribution studies.2010

    • Author(s)
      Luan Z, Higaki K, Aguilar-Moncayo M, Li L, Ninomiya H, Nanba E, Ohno K, Garcia-Moreno M, Mellet CO, Fernandez JMG, Suzuki Y.
    • Journal Title

      ChemBioChem 11(17)

      Pages: 2453-2464

    • Peer Reviewed
  • [Journal Article] Chemical chaperone therapy : Luciferase assay for screening of b-galactosidase mutations.2010

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

      Mol Genet Metab 101(4)

      Pages: 364-369

    • Peer Reviewed
  • [Journal Article] The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases.2010

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

      Blood Cells Mot Dis. 44(1)

      Pages: 48-54

    • Peer Reviewed
  • [Journal Article] ライソゾーム病の治療シャペロン療法2010

    • Author(s)
      大野耕策
    • Journal Title

      血液フロンティア 20(4)

      Pages: 69-77

  • [Journal Article] Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin.2009

    • Author(s)
      Luan Z, Higaki K, Aguilar-Moncayo M, Ninomiya H, Ohno K, Garcia-Moreno MI, Ortiz Mellet C, Garcia Fernandez JM, Suzuki Y.
    • Journal Title

      Chembiochem. 10(17)

      Pages: 2780-2792

    • Peer Reviewed
  • [Journal Article] Brainstem neuropathology in a mouse model of Niemann-Pick disease type C.2008

    • Author(s)
      Luan Z, Saito Y, Miyata H, Ohama E, Ninomiya H, Ohno K.
    • Journal Title

      J Neurol Sci. 268(1-2)

      Pages: 108-116

    • Peer Reviewed
  • [Journal Article] Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis.2008

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

      Biochem Biophys Res Commun. 367(3)

      Pages: 616-622

    • Peer Reviewed
  • [Presentation] 遺伝性小児神経疾患の治療について2011

    • Author(s)
      大野耕策
    • Organizer
      第1回由布院・児湯小児神経学研究会
    • Place of Presentation
      大分
    • Year and Date
      2011-03-18
  • [Presentation] ライソゾーム病の新しい低分子治療薬の開発2010

    • Author(s)
      大野耕策
    • Organizer
      第15回日本ライソゾーム病研究会
    • Place of Presentation
      東京
    • Year and Date
      2010-12-11
  • [Presentation] 医師とともに治療する薬剤業務-遺伝性ライソゾーム病に対する新しい治療と薬剤部との連携-2010

    • Author(s)
      大野耕策
    • Organizer
      第49回日本薬学会・日本薬剤師会・日本病院薬剤師会中国四国支部学術大会
    • Place of Presentation
      米子
    • Year and Date
      2010-11-06
  • [Presentation] 神経変性疾患と先天代謝異常症2010

    • Author(s)
      大野耕策
    • Organizer
      第52回日本先天代謝異常学会
    • Place of Presentation
      大阪
    • Year and Date
      2010-10-23
  • [Presentation] Molecular pathology : Gaucherdisease2010

    • Author(s)
      大野耕策
    • Organizer
      シャペロン療法国際シンポジウム
    • Place of Presentation
      米子
    • Year and Date
      2010-07-29
  • [Presentation] Chemical chaperone for Gaucher disease2010

    • Author(s)
      大野耕策
    • Organizer
      第1回アジア先天代謝異常学会議(The 1st ACIMD)
    • Place of Presentation
      福岡
    • Year and Date
      2010-03-09
  • [Presentation] リソゾーム病の新しい治療を中心に2009

    • Author(s)
      大野耕策
    • Organizer
      第4回成育代謝異常症研究会
    • Place of Presentation
      東京
    • Year and Date
      2009-12-04
  • [Presentation] ゴーシェ病へのケミカルシャペロン療法2009

    • Author(s)
      大野耕策
    • Organizer
      第1回カプアセミナー
    • Place of Presentation
      千葉
    • Year and Date
      2009-08-22
  • [Presentation] 遺伝性神経疾患の神経変性機構の解明と治療法の開発2009

    • Author(s)
      大野耕策
    • Organizer
      第51回日本小児神経学会総会 会長講演
    • Place of Presentation
      米子
    • Year and Date
      2009-05-28
  • [Patent(Industrial Property Rights)] Carba-sugar amine derivativeand glycolipid metabolic disorder treating agent containing the same as active agent2010

    • Inventor(s)
      Ogawa S, SuzukiY, Nanba E, MatsudaJm Ohno K
    • Industrial Property Rights Holder
      生化学工業
    • Industrial Property Number
      Rule143(1)EPC,10158635.2-1211
    • Acquisition Date
      2010-05-25
    • Overseas
  • [Patent(Industrial Property Rights)] Compuestos potenciadores de la actividad de glicosidasas mutantes2009

    • Inventor(s)
      Jose Manuel Garcia Fernandez, Carmen Ortiz Mellet, Yoshiyuki Suzuki, Kousaku Ohno
    • Industrial Property Rights Holder
      鳥取大学、国際医療福祉大学、スペイン・セビリア大学
    • Industrial Property Number
      PCT,PCT/ES2009/070449
    • Acquisition Date
      2009-11-05
    • Overseas

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Published: 2012-01-26   Modified: 2016-04-21  

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