Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology

Human Molecular Genetics

Volumn 24, Issue 15, 2015, Pages 4397-4406

  Grice, Stuart J ^a   Sleigh, James N ^a,b   Motley, William W ^c   Liu, Ji Long ^a   Burgess, Robert W ^d   Talbot, Kevin ^a   Cader, M Zameel ^a,b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

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

^d JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID TRANSFER RNA LIGASE; BETA ACTIN; BETA TUBULIN; CELL PROTEIN; GLUCOSE; GLYCINE TRANSFER RNA LIGASE; HORSERADISH PEROXIDASE; LIPOFECTAMINE; MESSENGER RNA; MONOCLONAL ANTIBODY; POLY DEXTRO LYSINE; PYRUVIC ACID; TRANSFER RNA;

AMINOACYLATION; ARTICLE; BIOASSAY; CELL MEMBRANE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DROSOPHILA BEHAVIOURAL ASSAY; DROSOPHILA MELANOGASTER; FLUORESCENCE; GAIN OF FUNCTION MUTATION; GARS GENE; GENE; GENE EXPRESSION; GENE MUTATION; HEK293 CELL LINE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MUSCLE ATROPHY; MUTAGENESIS; NERVE DEGENERATION; NEUROMUSCULAR JUNCTION; NEUROPATHOLOGY; NON CELL AUTONOMOUS NEUROPATHOLOGY; NONHUMAN; PRESYNAPTIC NERVE; PROTEIN EXPRESSION; TE 671 CELL LINE; TRANSNEURONAL DEGENERATION; WESTERN BLOTTING; ANIMAL; BIOSYNTHESIS; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; MUSHROOM BODY; MUTATION; OLFACTORY BULB; PATHOLOGY; PERIPHERAL NERVE;

ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; DISEASE MODELS, ANIMAL; DROSOPHILA MELANOGASTER; GENE EXPRESSION REGULATION; GLYCINE-TRNA LIGASE; HUMANS; MUSHROOM BODIES; MUTATION; NERVE DEGENERATION; NEUROMUSCULAR JUNCTION; OLFACTORY BULB; PERIPHERAL NERVES;

EID: 85016051523     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv176     Document Type: Article

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