Defective secretion of recombinant fragments of fibrillin-1: Implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders

Human Molecular Genetics

Volumn 12, Issue 7, 2003, Pages 727-737

  Whiteman, Pat ^a   Handford, Penny A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALNEXIN; CHAPERONE; EPIDERMAL GROWTH FACTOR; FIBRILLIN; GLUCOSE REGULATED PROTEIN; PROTEIN DISULFIDE ISOMERASE;

AMINO ACID SUBSTITUTION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MARFAN SYNDROME; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN GLYCOSYLATION; PROTEIN LOCALIZATION; PROTEIN SECRETION; PROTEIN TRANSPORT; RECOMBINANT GENE; REVIEW; WILD TYPE;

AMINO ACID SEQUENCE; BLOTTING, WESTERN; CALRETICULIN; CELL LINE; CLONING, MOLECULAR; CULTURE MEDIA, CONDITIONED; DNA; ENDOPLASMIC RETICULUM; FIBROBLASTS; GENES, DOMINANT; GLUCOSE; GLYCOSYLATION; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PRECIPITIN TESTS; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; RNA, MESSENGER; TRANSFECTION;

EID: 0037388618     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg081     Document Type: Review

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