Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation

Journal of Clinical Investigation

Volumn 123, Issue 5, 2013, Pages 1964-1975

  Mahammad, Saleemulla ^a   Prasanna Murthy, S N ^a   Didonna, Alessandro ^a   Grin, Boris ^a   Israeli, Eitan ^a   Perrot, Rodolphe ^b   Bomont, Pascale ^c   Julien, Jean Pierre ^b   Kuczmarski, Edward ^a   Opal, Puneet ^a   Goldman, Robert D ^a,d  

^a NORTHWESTERN UNIVERSITY   (United States)

^b LAVAL UNIVERSITY   (Canada)

^c Montpellier University Medical Center   (France)

^d MARINE BIOLOGICAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; GIGAXONIN; INTERMEDIATE FILAMENT PROTEIN; NEUROFILAMENT PROTEIN; PERIPHERIN; PROTEASOME; UNCLASSIFIED DRUG; VIMENTIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME INHIBITION; FIBROBLAST; GENE MUTATION; GENE OVEREXPRESSION; GIANT AXONAL NEUROPATHY; HUMAN; HUMAN CELL; INTERMEDIATE FILAMENT; MOUSE; NERVE CELL; NEUROFILAMENT; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION;

ANIMALS; CYTOSKELETAL PROTEINS; CYTOSKELETON; ENZYME-LINKED IMMUNOSORBENT ASSAY; FIBROBLASTS; GIANT AXONAL NEUROPATHY; HEK293 CELLS; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LEUPEPTINS; MICE; MICE, TRANSGENIC; MICROSCOPY, FLUORESCENCE; MUTATION; NEURONS; NIH 3T3 CELLS; PROTEASOME INHIBITORS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; UBIQUITIN-PROTEIN LIGASES; VIMENTIN;

EID: 84877106082     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI66387     Document Type: Article

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