西野 一三 にしの いちぞう 先生

来歴等

略歴

1989年　京都大学医学部卒業
1998年　京都大学 医学博士取得
2000年　国立精神・神経医療研究センター神経研究所微細構造研究部 室長
2001年　国立精神・神経医療研究センター神経研究所疾病研究第一部 部長
　　　　 山梨大学、マヒドン大学シリラート病院（タイ）、高雄醫學大學の客員教授

論文

(PubMed掲載論文383報より抜粋）
1. Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Am J Hum Genet. 2011 Jun 10;88(6):845-51.
2. Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Nat Med. 2011 Jun;17(6):720-5.
3. Iwabu M, Yamauchi T, Okada-Iwabu M, Sato K, Nakagawa T, Funata M, Yamaguchi M, Namiki S, Nakayama R, Tabata M, Ogata H, Kubota N, Takamoto I, Hayashi YK, Yamauchi N, Waki H, Fukayama M, Nishino I, Tokuyama K, Ueki K, Oike Y, Ishii S, Hirose K, Shimizu T, Touhara K, Kadowaki T.
Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca2+ and AMPK/SIRT1.
Nature. 2010 Apr 29;464(7293):1313-9. Epub 2010 Mar 31.
4. Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I.
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
J Clin Invest. 2009 Sep;119(9):2623-33. Epub 2009 Aug 10.
5. Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
Nat Med. 2009 Jun;15(6):690-5.
6. Fukami M, Wada Y, Okada M, Nishino I, Hasegawa T, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T.
CXorf6 is a causative gene for hypospadias.
Nat Genet. 2006 Dec;38(12):1369-71. Epub 2006 Nov 5.
7. Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP.
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
Nat Med. 2004 Jul;10(7):696-703. Epub 2004 Jun 6.
8. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kellely RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP.
Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
Nature. 2002 Jul 25;418(6896):417-22.
9. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
Nature. 2000 Aug 24;406(6798):906-10.
10. Papadopoulou LC, Sue CM, Davidson M, Tanji K, Nishino I, Sadlock J, Selby J, Glerum DM, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a human COX assembly gene.
Nat Genet. 1999 Nov;23(3):333-7.
11. Nishino I, Spinazzola A, Hirano M.
Thymidine phosphorylase gene mutations associated with MNGIE, a human mitochondrial disorder.
Science. 1999 Jan 29;283(5402):689-92.

著書

Rosenberg's Molecular and Genetic Basis of Neurological and Pyschiatric Disease、Academic Press、2015年、他

その他

• 【受賞】循環器学研究振興財団　内田賞、2002年

• 【受賞】日本神経学会賞、2009年