A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo-Reference-Cited by-同舟云学术

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Published:2012-10-11 Issue:1 Volume:34 Page:191-199
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vester Aimée¹,Velez-Ruiz Gisselle²,McLaughlin Heather M.¹,NISC Comparative Sequencing Program ³,Lupski James R.,Talbot Kevin⁴,Vance Jeffery M.⁵,Züchner Stephan⁵,Roda Ricardo H.⁶,Fischbeck Kenneth H.⁶,Biesecker Leslie G.⁷,Nicholson Garth,Beg Asim A.²,Antonellis Anthony

Affiliation:

1. Department of Human Genetics; University of Michigan Medical School; Ann Arbor; Michigan

2. Department of Pharmacology; University of Michigan Medical School; Ann Arbor; Michigan

3. NIH Intramural Sequencing Center; National Human Genome Research Institute, National Institutes of Health; Bethesda; Maryland

4. Department of Clinical Neurology; University of Oxford; Oxford; United Kingdom

5. Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami; Florida

6. Neurogenetics Branch; National Institute of Neurological Disorders and Stroke, National Institutes of Health; Bethesda; Maryland

7. Genetic Disease Research Branch; National Human Genome Research Institute, National Institutes of Health; Bethesda; Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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4. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans;Bayat;PLoS Biol,2012

5. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome;Belostotsky;Am J Hum Genet,2011

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