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Studies of the enzyme replacement therapy for Fabry disease

Research Project

Project/Area Number 11672286
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field 応用薬理学・医療系薬学
Research InstitutionTokyo Metropolitan Organization for Medical Research

Principal Investigator

KASE Ryoichi  Tokyo Metropolitan Organization for Medical Research, the Tokyo Metropolitan Institute of Medical Science, Researcher, 東京都臨床医学総合研究所, 研究員 (20150203)

Co-Investigator(Kenkyū-buntansha) SHIMMOTO Michie  Tokyo Metropolitan Organization for Medical Research, the Tokyo Metropolitan Institute of Medical Science, Researcher, 東京都臨床医学総合研究所, 研究員 (20216237)
SAKURABA Hitoshi  Tokyo Metropolitan Organization for Medical Research, the Tokyo Metropolitan Institute of Medical Science, Researcher, 東京都臨床医学総合研究所, 研究員 (60114493)
Project Period (FY) 1999 – 2000
Project Status Completed (Fiscal Year 2000)
Budget Amount *help
¥3,300,000 (Direct Cost: ¥3,300,000)
Fiscal Year 2000: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 1999: ¥1,500,000 (Direct Cost: ¥1,500,000)
KeywordsFabry disease / α-Galactosidase / Lysosome / Enzyme replacement
Research Abstract

The genetic defect of α-galactosidase encoded by a gene localized to the X-chromosomal region, Xq22, results in Fabry disease. This disease is characterized by the systemic intralysosomal accumulation of neutral sphingolipids, predominantly globotriaosylceramide (GbOse_3Cer), in cells of the heart, kidneys, and vascular endothelial system. A screening study revealed that atypical Fabry variants comprised 3% of unrelated male patients with left ventricular hypertrophy referred to a cardiology clinic in Japan. First, we constructed the clones of the methylotropic yeast Pichia pastoris. Recombinant α-galactosidase was secreted by the Pchia clones. The recombinant enzyme was purified to homogeneity using two column chromatography steps. Then, the glyco-chains of the recombinant α-galactosidase was trimmed by α-mannosidase for the effective up-take by fibroblasts derived from the patients with Fabry disease.

Report

(3 results)
  • 2000 Annual Research Report   Final Research Report Summary
  • 1999 Annual Research Report
  • Research Products

    (19 results)

All Other

All Publications (19 results)

  • [Publications] Utsumi,K.: "Urinary excretion of the vitronectin receptor (integrin α_vβ_3) in patients with non-insulin dipendent diabetes"Clin.Exper.Nephr.. 1. 41-45 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Utsumi,K.: "Urinary excretion of the vitronectin receptor (integri α_vβ_3) in patients of Fabry disease"Clin.Chim.Acta. 279. 55-68 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Sakuraba,H.: "GM_2 Gangliosidosis AB variant : clinical and biochemical studies of a Japanese patient"Neurology. 52. 372-377 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Utsumi,K.: "Fabry disease in patients receiving maintenance. dialysis"Clin.Exp.Nephrol.. 4. 49-51 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Kase,R.: "Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease"Biochim.Biophys.Acta. 1501. 227-235 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] K Utsumi: "Urinary excretion of the vitronectin receptor (integrin α_vβ_3) in patients with non-insulin dependent diabetes"Clin. Exper. Nephr.. 1. 41-45 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] K.Utsumi: "Urinary excretion of the vitronectin receptor (integrin α_vβ_3) in patients of Fabry disease"Clin. Chim. Acta. 279. 55-68 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] H.Sakuraba: "G_<M2> Gangliosidosis AB variant : Clinical and biochemical studies of a Japanese patient"Neurology. 52. 372-377 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] K.Utsumi: "Fabry disease in patients receiving maintenance dialysis"Clin. Exper. Nephr.. 4. 49-51 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] R.Kase: "Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease"Biochim. Biophys. Acta. 1501. 227-235 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Utsmi,K.: "Urinary excretion of the vitronectin receptor (integrinα_Vβ_3) in patients with non-insulin dependent diabetes"Clin.Exper.Nephr.. 1. 41-45 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Utsumi,K.: "Urinary excretion of the vitronectin receptor(integrinα_vβ_3) in patients of Fabry disease"Clin.Chim.Acta. 279. 55-68 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Sakuraba,H.: "Gm_2 Gangliosidosis AB variant : Clinical and biochemical studies of a Japanese patient"Neurology. 52. 372-377 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Utsumi,K.: "Fabry disease in patients receiving maintenance dialysis"Clin.Exp.Nephrol.. 4. 49-51 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Kase,R.: "Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease"Biochim.Biophys.Acta. 1501. 227-235 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Utsumi , K.: "Urinary excretion of the nitronectin receptor (integrin α_vβ_3) in patients with non-insulin dependant diabetes"Clin. Exper. Nephr.. 1. 41-45 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Utsumi, K.: "Urinary excretion of the nitronectin receptor (integrin α_vβ_3) in patients of Fabry disease"Clin. Chim. Acta. 279. 55-68 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Sakuraba, H.: "GM2 gangliosidosis AB variant : Clinical and biochemical studies of a Japanese patient"Neurology. 52. 372-377 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 桜庭均: "Fabry病の不全型-特にその心型について"Annual Review神経. 268-279 (1999)

    • Related Report
      1999 Annual Research Report

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Published: 1999-04-01   Modified: 2016-04-21  

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