Art

J-GLOBAL ID：201302204265561976   Reference number：13A0058253

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

Leber遺伝性視神経症のミトコンドリアDNA変異マウスモデル

Author (21)： LIN Chun Shi (Children’s Hospital of Philadelphia, PA) ,  LIN Chun Shi (Univ. California, CA) ,  SHARPLEY Mark S. (Children’s Hospital of Philadelphia, PA) ,  SHARPLEY Mark S. (Univ. California, CA) ,  FAN Weiwei (Univ. California, CA) ,  WAYMIRE Katrina G. (Univ. California, CA) ,  SADUN Alfredo A. (Univ. Southern California (USC) Keck School of Medicine, CA) ,  CARELLI Valerio (Univ. Southern California (USC) Keck School of Medicine, CA) ,  CARELLI Valerio (Istituiti di Ricovero e Cura a Carattere Scientifico (IRCCS), Bologna, ITA) ,  CARELLI Valerio (Univ. Bologna School of Medicine, Bologna, ITA) ,  ROSS-CISNEROS Fred N. (Univ. Southern California (USC) Keck School of Medicine, CA) ,  BACIU Peter (Allergan, Inc., CA) ,  SUNG Eric (Allergan, Inc., CA) ,  MCMANUS Meagan J. (Children’s Hospital of Philadelphia, PA) ,  PAN Billy X. (Univ. Southern California (USC) Keck School of Medicine, CA) ,  GIL Daniel W. (Allergan, Inc., CA) ,  MACGREGOR Grant R. (Univ. California, CA) ,  MACGREGOR Grant R. (Univ. Southern California (USC) Keck School of Medicine, CA) ,  WALLACE Douglas C. (Children’s Hospital of Philadelphia, PA) ,  WALLACE Douglas C. (Univ. California, CA) ,  WALLACE Douglas C. (Univ. Pennsylvania, PA)
Material： Proceedings of the National Academy of Sciences of the United States of America  (PNAS)
Volume： 109  Issue： 49  Page： 20065-20070  Publication year： Dec. 04, 2012 
JST Material Number： D0387A  ISSN： 0027-8424  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *mitochondrial disease ,  *Optic Atrophy ,  *cranial nerve disease ,  DNA ,  experimental disease ,  transgenic mouse ,  missense mutation ,  *oxidative stress ,  Proteins ,  synapse ,  active oxygen ,  neuron ,  photoreceptor ,  Retina ,  nervous system disease ,  NAD(P)H dehydrogenase ,  DNA, Mitochondrial ,  Retinal Ganglion Cells ,  Electron Transport Complex I ,  *hereditary disease ,  *congenital disease
Semi thesaurus term： NAD(P)H dehydrogenase(quinone compounds) ,  *LHON ,  ND6 ,  Axonopathy ,  complex I

JST classification (3)： Basic ophthalmology  (GP01020C) ,  Basic neurology  (GN01020W) ,  Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (4)： Leber遺伝性視神経症 ,  ミトコンドリアDNA ,  変異 ,  マウスモデル