Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
Author:
Funder
National Health and Medical Research Council
Australian Mitochondrial Disease Foundation
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference28 articles.
1. A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement;N Kawakami;Rinsho Shinkeigaku,2014
2. The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes;D Diodato;Int J Cell Biol,2014
3. Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology;SJ Grice;Hum Mol Genet,2015
4. GARS axonopathy: not every neuron's cup of tRNA;WW Motley;Trends Neurosci,2010
5. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease;YC Liao;PLoS One,2015
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