PMC Links for Gene (Select 287924) - PMC

Select item 28967781.

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

Lisa G. Riley, Sandra Cooper, Peter Hickey, Joëlle Rudinger-Thirion, Matthew McKenzie, Alison Compton, Sze Chern Lim, David Thorburn, Michael T. Ryan, Richard Giegé, Melanie Bahlo, John Christodoulou

Am J Hum Genet. 2010 Jul 9; 87(1): 52–59. doi: 10.1016/j.ajhg.2010.06.001

PMCID:: PMC2896778

Abstract Article PDF–770K

Select item 13707432.

Human mitochondrial TyrRS disobeys the tyrosine identity rules

LUC BONNEFOND, MAGALI FRUGIER, RICHARD GIEGÉ, JOËLLE RUDINGER-THIRION

RNA. 2005 May; 11(5): 558–562. doi: 10.1261/rna.7246805

PMCID:: PMC1370743

Abstract Article PDF–291K

Select item 27788443.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016