Abnormality of the involvement of glycosylphosphatidylinositol anchor in a peroxisomal disorder.

• Project/Area Number: 23790365
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pathological medical chemistry
• Research Institution: Osaka University
• Principal Investigator: KANZAWA Noriyuki 大阪大学, 微生物病研究所, 特任助教 (40452461)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2012: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2011: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
• Keywords: GPI アンカー / アルキルリン脂質 / ペルオキシソーム病 / 肢根型点状軟骨異形成症 / Zellweger 症候群 / GPIアンカー / RCDP / Zellweger症候群 / アルキルアシル型リン脂質

Research Abstract

Dysfunction of peroxisome cause peroxisomal disorders. I analyzed the structure of glycosylphosphatidylinositol(GPI) anchor in patients of rhizomelic chondrodysplasia punctate(RCDP) and Zellweger syndrome. These patients are defective in alkyl-acyl form GPI anchor and expressing diacyl form GPI only. The expression levels of GPI-anchored protein increased in the mutant cells of responsible gene of RCDP. I found the involvements between peroxisomal disorders and functions of GPI-anchored protein.

Research Products

• [Journal Article] Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia-mental retardation syndrome (2012)
  • 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
• [Journal Article] Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome and rhizomelic chondrodysplasia punctata (2012)
  • 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
• [Presentation] GPI アンカー生合成における脂質リモデリングのアルキル供与体の解明 (2011)
  • Author(s): 神澤 範行, 前田 裕輔, 藤田 盛久, 木下 タロウ
  • Organizer: 第84回 日本生化学会大会
  • Place of Presentation: 京都
• [Presentation] Biosynthesis of GPI-anchored proteins requires peroxisome (2011)
  • Author(s): Kanzawa N, Maeda Y, Ikeda K, Murakami Y, Fujita M, Shimozawa N, Fujiki Y, Taguchi R and Kinoshita T
  • Organizer: 第30回 内藤カンファレンス
  • Place of Presentation: 札幌
• [Presentation] GPIアンカー生合成における脂質リモデリングのアルキル供与体の解明 (2011)
  • Author(s): 神澤 範行, 前田 裕輔, 藤田 盛久, 木下 タロウ
  • Organizer: 第84回 日本生化学会大会
  • Place of Presentation: 京都
• [Presentation] Biosynthesis of GPI-anchored proteins requires peroxisome. (2011)
  • Author(s): Kanzawa N, Maeda Y, Ikeda K, Murakami Y, Fujita M, Shimozawa N, Fujiki Y, Taguchi R and Kinoshita T
  • Organizer: 第30回 内藤カンファレンス
  • Place of Presentation: 札幌
• [Book] 生体の科学「細胞の分子構造と機能 -核以外の細胞小器官- GPI アンカーのリモデリングにおけるペルオキシソームの役割とその異常」 (2012)
  • Author(s): 神澤 範行, 木下タロウ