Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype

Annals of Neurology

Volumn 74, Issue 4, 2013, Pages 547-559

  Kang, Jing Qiong ^a   Shen, Wangzhen ^a   Macdonald, Robert L ^a  

^a VANDERBILT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR BETA2; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; MESSENGER RNA; POLYUBIQUITIN;

ALLELE; ANIMAL CELL; ARTICLE; BIOGENESIS; CONJUGATION; CONTROLLED STUDY; CYTOTOXICITY; DISEASE SEVERITY; ENDOPLASMIC RETICULUM STRESS; EPILEPSY; FLOW CYTOMETRY; GABRG2 GENE; GENE EXPRESSION; GENETIC HETEROGENEITY; HOMEOSTASIS; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; ISOTOPE LABELING; LOSS OF FUNCTION MUTATION; MOLECULAR WEIGHT; MOUSE; NERVE CELL; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; PROTEIN METABOLISM; PROTEIN STABILITY; RAT; RECEPTOR GENE; WILD TYPE;

ANIMALS; CELL LINE, TRANSFORMED; CODON, NONSENSE; DISEASE MODELS, ANIMAL; ENDOPLASMIC RETICULUM; EPILEPSY; GENE EXPRESSION REGULATION; GENOTYPE; GLYCOSYLATION; HUMANS; MICE; MICE, TRANSGENIC; MODELS, MOLECULAR; MUTAGENESIS; PHENOTYPE; PROTEIN SUBUNITS; PROTEIN TRANSPORT; RECEPTORS, GABA-A; TRANSCRIPTION FACTOR CHOP; TRANSFECTION; UBIQUITIN;

EID: 84890126688     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23947     Document Type: Article

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