Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1363-1371

  Griffin, Laurie B ^a   Sakaguchi, Reiko ^b   Mcguigan, David ^b   Gonzalez, Michael A ^c   Searby, Charles ^d   Züchner, Stephan ^c   Hou, Ya Ming ^b   Antonellis, Anthony ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

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

^d UNIVERSITY OF IOWA   (United States)

Author keywords

Aminoacyl tRNA synthetase; Charcot Marie Tooth disease; GARS; Glycyl tRNA synthetase; Peripheral neuropathy

Indexed keywords

GLYCINE TRANSFER RNA LIGASE; PROTEIN VARIANT; TRANSFER RNA;

AMINOACYLATION; ANIMAL CELL; ARTICLE; CELL VIABILITY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GENE LOCATION; GENE MUTATION; GENETIC CONSERVATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOUSE; NERVE CELL CULTURE; NEUROPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN LOCALIZATION; YEAST CELL; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETICS; KINETICS; MALE; METABOLISM; MUTATION; NERVE CELL; NEUROLOGIC DISEASE; PEDIGREE; PROTEIN TRANSPORT; YEAST;

AMINO ACID SEQUENCE; AMINOACYLATION; ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GLYCINE-TRNA LIGASE; HUMANS; KINETICS; MALE; MICE; MUTATION; NERVOUS SYSTEM DISEASES; NEURONS; PEDIGREE; PROTEIN TRANSPORT; YEASTS;

EID: 84917739128     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22681     Document Type: Article

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