The functional analysis of epilepsy related gene TRPP3

2011 Fiscal Year Final Research Report

• Project/Area Number: 22790208
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: General physiology
• Research Institution: Kyoto University
• Principal Investigator: NUMATA Tomohiro 京都大学, 地球環境学堂, 助教 (20455223)
• Project Period (FY): 2010 – 2011
• Keywords: TRPP3 / TRPチャネル / 小児てんかん

Research Abstract

Juvenile myoclonic epilepsy is the most frequently encountered and most common of the generalized epilepsy syndromes. In this research, mutations of the TRPP3 gene were detected in patients with Juvenile myoclonic epilepsy. Heterologous expression and functional analysis revealed abnormality in the 17 kinds of mutant channels.

Research Products

• [Journal Article] The juvenile myoclonicepilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channellinked to cell death (2012)
  • Author(s): Katano M, Numata T, Aguan K, Hara Y, Kiyonaka S, Yamamoto S, Miki T, Sawamura S, Suzuki T, Yamakawa K, & Mori Y.
  • Journal Title: Cell Calcium Volume: 51(2) Pages: 179-185
  • DOI: DOI:10.1016/j.ceca.2011.12.011
• [Journal Article] The Csplice-variant of TRPM2 is the hypertonicity-induced cation channel(HICC) in HeLa cells, and the ecto-enzyme CD38mediates its activation (2012)
  • Author(s): Numata T, Sato K, Christmann J, Marx R, Mori Y, Okada Y, Wehner F
  • Journal Title: J Physiology Volume: 590 Pages: 1121-1138
  • DOI: DOI:10.1113/jphysiol.2011.220947
• [Journal Article] Involvements of the ABC protein ABCF2 andα-actinin-4 in regulation of cell volume and anion channels in human epithelial cells (2012)
  • Author(s): Ando-Akatsuka Y, Shimizu T, Numata T, Okada Y
  • Journal Title: J Cell Physiol
  • DOI: DOI:10.1002/jcp.24050
• [Journal Article] Utilization of Photo induced Charge-Separated State of Donor-Acceptor Linked Molecules for Regulation of Cell Membrane Potential and Ion Transport (2012)
  • Author(s): Numata T, Murakami T, Kawashima F, Morone N, Heuser JE, Takano Y, Ohkubo K, Fukuzumi S, Mori Y, Imahori H
  • Journal Title: J Am Chem Soc Volume: 134 Pages: 6092-6095
  • DOI: DOI:10.1021/ja3007275
• [Journal Article] V2 Receptor-Mediated Autocrine Role of Somatodendritic Release of AVP in Rat Vasopressin Neurons Under Hypo-Osmotic Conditions (2011)
  • Author(s): Sato K, Numata T, Saito T, Ueta Y, & Okada Y
  • Journal Title: Sci Signal Volume: 4
  • DOI: DOI:10.1126/scisignal.2001279
• [Journal Article] TRPA1 underlies a sensing mechanism for O(2) (2011)
  • Author(s): Takahashi N, Kuwaki T, Kiyonaka S, Numata T, Kozai D, Mizuno Y, YamamotoS, Naito S, Knevels E, Carmeliet P, Oga T, Kaneko S, Suga S, Nokami T, Yoshida J, Mori Y
  • Journal Title: Nat ChemBiol Volume: 7 Pages: 701-711
  • DOI: DOI:10.1038/nchembio.640
• [Journal Article] Expression of N-type calcium channels in human adrenocortical cells and their contribution to corticosteroid synthesis (2011)
  • Author(s): Aritomi S, Wagatsuma H, Numata T, Uriu Y, Nogi Y, Mitsui A, Konda T, Mori Y, & Yoshimura M
  • Journal Title: Hypertention Research Volume: 34 Pages: 193-201
  • DOI: DOI:10.1038/hr.2010.191
• [Journal Article] TRPM1 : A vertebrate TRP channel responsible for retinal ON bipolar function (2010)
  • Author(s): Koike C, Numata T, Ueda H, Mori Y, & Furukawa T
  • Journal Title: Cell Calcium Volume: 48 Pages: 95-101
  • DOI: DOI:10.1016/j.ceca.2010.08.004
• [Journal Article] TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade (2010)
  • Author(s): Koike C, Obara T, Uriu Y, Numata T, SanukiR, Miyata K, Koyasu T, Ueno S, Funabiki K, Tani A, Ueda H, Kondo M, Mori Y, Tachibana M, & Furukawa T
  • Journal Title: Proc Natl Acad Sci USA Volume: 107 Pages: 332-337
  • DOI: DOI:10.1073/pnas.0912730107
• [Journal Article] Rim2 determins docking and priming states in insulin granule exocytosis (2010)
  • Author(s): Yasuda T, Shibasaki T, Minami K, TakahashiH, Mizoguchi A, Uriu Y, Numata T, Mori Y, Miyazaki J, Miki T, & Seino S
  • Journal Title: Cell Metabolism Volume: 4 Pages: 117-129
  • DOI: DOI:10.1016/j.cmet.2010.05.017
• [Journal Article] The modulation of TRPM7 currents by nafamostat mesilatedepends directly upon extracellular concentrations of divalent cations (2010)
  • Author(s): Chen X, Numata T(co-first author), Li M, Mori Y, Orser BA, Jackson MF, Xiong ZG, & Macdonald JF
  • Journal Title: Mol Brain Volume: 3 Pages: 38
  • DOI: DOI:10.1186/1756-6606-3-38
• [Presentation] TRPA1は体内への酸素供給を制御する酸素センサーである (2012)
  • Author(s): 高橋重成、桑木共之、清中茂樹、沼田朋大、森泰生
  • Organizer: 第89回日本生理学会大会
  • Place of Presentation: 長野県松本文化会館
  • Year and Date: 20120329-31
• [Presentation] Ca^<2+>チャネル点変異マウスtotteringの海馬における癲癇様オシレーションの発生機序解明 (2012)
  • Author(s): 中尾章人、三木崇史、下野健、沼田朋大、清中茂樹、若森実、森泰生
  • Organizer: 第89回日本生理学会大会
  • Place of Presentation: 長野県松本文化会館
  • Year and Date: 20120329-31
• [Presentation] 熱性けいれん患者において発見されたHCN2変異は温度依存的な活性を変化させる (2012)
  • Author(s): 中村友紀、石秀玉、沼田朋大、森泰生、井上隆司、廣瀬伸一
  • Organizer: 第89回日本生理学会大会
  • Place of Presentation: 長野県松本文化会館
  • Year and Date: 20120329-31
• [Presentation] TRPA1チャネルの酸素感受機構の解明 (2012)
  • Author(s): 沼田朋大、高橋重成、清中茂樹、香西大輔、森泰生
  • Organizer: 第89回日本生理学会大会
  • Place of Presentation: 長野県松本文化会館
  • Year and Date: 20120329-31
• [Presentation] The juvenile myoclonicepilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death (2012)
  • Author(s): Tomohiro Numata
  • Organizer: 第一回多階層生体機能学HD Physiology国際シンポジウム
  • Place of Presentation: 東京大学武田先端知ビル武田ホール
  • Year and Date: 20120120-21
• [Presentation] 酸感受性外向整流性クロライドチャネル分子実体の探究 (2012)
  • Author(s): 佐藤かお理、沼田朋大、リーエルバート、岡田泰伸
  • Organizer: 第89回日本生理学会大会
  • Place of Presentation: 長野県松本文化会館
  • Year and Date: 2012-03-29
• [Presentation] TRPM7 is an essential regulator for the volume-sensitive outwardly rectifying anion channel(VSOR) activity (2011)
  • Author(s): Tomohiro Numata, Kaori Sato, Carsten Schmitz, Meredith C. Hermosura, Anne-Laure Perraud, Yasuo Mori, Yasunobu Okada
  • Organizer: The 7th Congress of the Federation of Asian and Oceanian Physiological Societies(FAOPS)
  • Place of Presentation: Taipei(Taiwan)
  • Year and Date: 20110911-14
• [Presentation] 熱性けいれん患者において発見されたHCN2遺伝子変異は温度依存的な活性を変化させる (2011)
  • Author(s): 中村友紀、石秀玉、沼田朋大、森泰生、井上隆司、廣瀬伸一
  • Organizer: 第88回日本生理学会大会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 20110328-30
• [Presentation] TRPM1は網膜ON型双極細胞の視覚伝達チャネルである (2011)
  • Author(s): 沼田朋大、小池千恵子、上田浩、森泰生、古川貴久
  • Organizer: 第88回日本生理学会大会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 20110328-30
• [Presentation] 低浸透圧条件下におけるVSOR Cl.チャネルとTRPM7チャネルの機能連関 (2011)
  • Author(s): 沼田朋大, 佐藤かお理, Carsten Schmitz, Meredith C. Hermosura, Anne-Laure Perraud, 森泰生, 岡田泰伸
  • Organizer: 第88回日本生理学会大会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 20110328-30
• [Presentation] A pathogenic Cterminus-truncated polycystin-2 mutationenhances receptor-activated Ca2+entry viaassociation with TRPC3 and TRPC7 Japan Canada Symposium (2010)
  • Author(s): Numata T
  • Place of Presentation: Convergence Centre Boardroom, Windermere, London, Canada
  • Year and Date: 20100512-13
• [Book] トランスポトソームの世界-膜輸送研究の源流から未来へ (2011)
  • Author(s): 森泰生, 沼田朋大, 高橋重成(2-4-1総論), 沼田朋大
  • Publisher: 京都廣川書店
• [Book] Activation of TRP channelsin mammalian systems (2011)
  • Author(s): Numata, T., Kiyonaka S, Kato K, Takahashi N, & Mori Y.
  • Publisher: Taylor & Francis Group
• [Remarks]
  • URL: http://www.sbchem.kyoto-u.ac.jp/mori-lab/member/numata.html