Variable phenotypes of knockin mice carrying the M712T Gne mutation

NeuroMolecular Medicine

Volumn 15, Issue 1, 2013, Pages 180-191

  Sela, Ilan ^a   Yakovlev, Lena ^a   Becker Cohen, Michal ^a   Elbaz, Moran ^a   Yanay, Nurit ^a   Ben Shlomo, Uri ^a   Yotvat, Hagit ^a   Fellig, Yakov ^a   Argov, Zohar ^a   Mitrani Rosenbaum, Stella ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Gne isoforms; GNE myopathy; HIBM; Knockin mouse; Renal disorder; Unfolded protein response

Indexed keywords

GLUCOSE REGULATED PROTEIN 78; GROWTH ARREST AND DNA DAMAGE INDUCIBLE PROTEIN 153; MESSENGER RNA; X BOX BINDING PROTEIN 1;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; GENOTYPE; GNE GENE; KIDNEY FAILURE; MALE; MORTALITY; MOUSE; MYOPATHY; NEWBORN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; UNFOLDED PROTEIN RESPONSE; UPREGULATION;

AMINO ACID SUBSTITUTION; ANIMALS; CROSSES, GENETIC; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; GENE KNOCK-IN TECHNIQUES; GENOTYPE; HUMANS; KIDNEY; MICE; MICE, TRANSGENIC; MULTIENZYME COMPLEXES; MUSCLE STRENGTH; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOSITIS, INCLUSION BODY; ORGAN SPECIFICITY; PHENOTYPE; POINT MUTATION; PROTEIN ISOFORMS; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX; SPECIFIC PATHOGEN-FREE ORGANISMS; UNFOLDED PROTEIN RESPONSE;

MUS;

EID: 84874731132     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-012-8209-7     Document Type: Article

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