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

Human Mutation

Volumn 34, Issue 1, 2013, Pages 191-199

  Vester, Aimée ^a   Velez Ruiz, Gisselle ^a   McLaughlin, Heather M ^a   Nisc Comparative Sequencing Program, ^b   Lupski, James R ^c,d   Talbot, Kevin ^e   Vance, Jeffery M ^f   Züchner, Stephan ^f   Roda, Ricardo H ^g   Fischbeck, Kenneth H ^g   Biesecker, Leslie G ^b   Nicholson, Garth ^h,i   Beg, Asim A ^a   Antonellis, Anthony ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^h Department of Microbiology and Infectious Diseases   (Australia)

ⁱ University of Sydney   (Australia)

Author keywords

Aminoacyl tRNA synthetases; HARS; Neurotoxicity; Peripheral neuropathy

Indexed keywords

HISTIDINE TRANSFER RNA LIGASE;

ADULT; ALLELE; AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ARTICLE; CAENORHABDITIS ELEGANS; COHORT ANALYSIS; CONTROLLED STUDY; EXOME; EXPERIMENTAL MODEL; GENE EXPRESSION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC COMPLEMENTATION; GENETIC SCREENING; HISTIDINE TRANSFER RNA SYNTHETASE GENE; HUMAN; IN VIVO STUDY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOTONEURON; MUTATIONAL ANALYSIS; NEUROTOXICITY; NONHUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; YEAST;

EID: 84871608495     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22210     Document Type: Article

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