the research of PKHD1 product FPC in cell signaling related to major ARPKD phenotypes.

• Project/Area Number: 21591029
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Kidney internal medicine
• Research Institution: Osaka University
• Principal Investigator: KAIMORI Junya 大阪大学, 医学系・研究科, 寄附講座准教授 (70527697)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2009: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 遺伝子 / 発現制御 / 腎臓 / 細胞内情報伝達 / ARPKD / Polyductin / RhoA / Rap1B / Smurf1,2 / Lipid raft / TGF-b / endocytosis / Enac / NEDD4-2 / lipid raft / Smurf1, 2

Research Abstract

Autosomal recessive polycystic kidney disease(ARPKD) suffers patients in childhood. The disease phenotypes are polycystic kidney, hypertension and hepatic fibrosis. This research project discovers ARPKD gene, PKHD1 product, FPC regulates ubiquichin proteasome pathway. The mutated FPC or PKHD1 inactivation lead to a halt of degradation of important proteins in cell structure, sodium absorption and TGF-beta signaling, causing ARPKD disease phenotypes.

Research Products

• [Presentation] Pkhd1 deficiency identifies a novel functional relationship between FPC, Nedd4 ubiquitin ligase family-mediated endocytosis, TGF-beta signaling, and ENaC regulation (2010)
  • Author(s): 貝森淳哉
  • Organizer: 米国腎臓学会
  • Place of Presentation: 米国Denver
  • Year and Date: 2010-11-18
• [Presentation] Pkhd1 deficiency identifies a novel functional relationship between FPC, Nedd4 ubiquitin ligase family-mediated endocytosis, TGF-beta signaling, and ENaC regulation. (2010)
  • Author(s): 貝森淳哉
  • Organizer: 米国腎臓学会
  • Place of Presentation: 米国Denver
  • Year and Date: 2010-11-18
• [Presentation] ARPKDの主要臨床症状(腎嚢胞形成、肝線維化、高血圧症)がHECTubiquitin E3 ligase familyを介したvesicle traffickingの異常という概念で統一的に説明出来る可能性 (2010)
  • Author(s): 小尾義嗣
  • Organizer: 分子腎臓フォーラム2010
  • Place of Presentation: 東京
  • Year and Date: 2010-09-04
• [Presentation] Pkhd1 deficiency identifies a nobel functional relationship between Fibrocystin/ Polyductin and NEDD4 family E3 ligase mediated endocytosis, leading to ARPKD clinical symptoms (2010)
  • Author(s): 貝森淳哉
  • Organizer: 腎疾患と高血圧研究会
  • Place of Presentation: 東京
  • Year and Date: 2010-07-03
• [Presentation] Pkhd1 deficiency identifies a nobel functional relationship between Fibrocystin/Polyductin and NEDD4 family E3 ligase mediated endocytosis, leading to ARPKD clinical symptoms. (2010)
  • Author(s): 貝森淳哉
  • Organizer: 腎疾患と高血圧研究会
  • Place of Presentation: 東京
  • Year and Date: 2010-07-03
• [Presentation] Pkhd1 deficiency causes dysregulation in SMURFs and endocytosis, leading to cell-structural changes and enhanced TGF-beta signaling (2010)
  • Author(s): 貝森淳哉
  • Organizer: 日本腎臓学会
  • Place of Presentation: 神戸
  • Year and Date: 2010-06-16
• [Presentation] Polyductin(PD1) deficiency causes dysregulation of Smurfs and altered endocytosis, resulting in cytostructural changes and TGF-b signaling defects (2009)
  • Author(s): 貝森淳哉
  • Organizer: 日本腎臓学会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 2009-06-04
• [Presentation] Polyductin (PD1) deficiency causes dysregulation of Smurfs and altered endocytosis, resulting in cytostructural changes and TGF-b signaling defacts (2009)
  • Author(s): 貝森淳哉
  • Organizer: 第52回 日本腎臓学会学術総会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 2009-06-04