The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
医学
化学
内科学
作者
Emily Spaulding,Timothy J. Hines,P. Bais,Abigail L. D. Tadenev,R. Schneider,D. Jewett,B. Pattavina,S. L. Pratt,Kathryn H. Morelli,M. G. Stum,D. P. Hill,Cédric Gobet,Menelaos Pipis,Mary M. Reilly,Matthew J. Jennings,Rita Horvath,Yunhong Bai,Michael E. Shy,Beatriz Alvarez-Castelao,Erin M. Schuman,Laurent P. Bogdanik,E. Storkebaum,R. W. Burgess
出处
期刊:Science [American Association for the Advancement of Science (AAAS)] 日期:2021-09-03卷期号:373 (6559): 1156-1161被引量:7
标识
DOI:10.1126/science.abb3414
摘要
Dominant mutations in ubiquitously expressed transfer RNA (tRNA) synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease. Genetic...