Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

Journal of Cell Science

Volumn 114, Issue 24, 2001, Pages 4459-4468

  Vigouroux, Corinne ^a   Auclair, Martine ^a   Dubosclard, Emmanuelle ^a   Pouchelet, Marcel ^a   Capeau, Jacqueline ^a   Courvalin, Jean Claude ^a   Buendia, Brigitte ^a  

^a INSTITUT JACQUES MONOD   (France)

Author keywords

Lamin A C gene; Lipodystrophy; Mutation; Nuclear dysmorphy; Nuclear envelope disorganization

Indexed keywords

EMERIN; INSULIN; INTERMEDIATE FILAMENT PROTEIN; LAMIN A; LAMIN B; LAMIN C; LAMININ BINDING PROTEIN; MEMBRANE PROTEIN; MUTANT PROTEIN; NUCLEAR PROTEIN;

ARTICLE; BODY DISTRIBUTION; BODY FAT; CASE REPORT; CELL CYCLE; CELL DIVISION; CELL NUCLEUS; CELL NUCLEUS MEMBRANE; CELL SUBPOPULATION; CHROMATIN; CONTROLLED STUDY; CYTOARCHITECTURE; CYTOPATHOLOGY; FAMILIAL DISEASE; FEMALE; FIBROBLAST CULTURE; GENETIC ANALYSIS; HEAT SHOCK RESPONSE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; INSULIN RESISTANCE; LIPODYSTROPHY; MISSENSE MUTATION; NUCLEAR PORE COMPLEX; PATHOGENESIS; PLOIDY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN POLYMERIZATION; SKIN FIBROBLAST;

ADULT; ARGININE; CELL CYCLE; CELL NUCLEUS; CELLS, CULTURED; DNA-BINDING PROTEINS; FEMALE; FIBROBLASTS; GLUTAMINE; HEAT; HETEROZYGOTE DETECTION; HUMANS; IMMUNOBLOTTING; LAMIN TYPE A; LAMINS; LIPODYSTROPHY; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; NUCLEAR ENVELOPE; NUCLEAR PORE COMPLEX PROTEINS; NUCLEAR PROTEINS; SOLUBILITY; TRYPTOPHAN; VARIATION (GENETICS);

EID: 0035691915     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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