Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

Human Mutation

Volumn 29, Issue 12, 2008, Pages 1425-1434

  Kutz, Wendy E ^a   Wang, Lauren W ^a   Dagoneau, Nathalie ^b   Odrcic, Kazimir J ^c   Cormier Daire, Valerie ^b   Traboulsi, Elias I ^a   Apte, Suneel S ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c South Bend Clinic   (United States)

Author keywords

ADAMTS10; Marfan syndrome; Metalloprotease; Signal peptide; Weill Marchesani syndrome

Indexed keywords

SIGNAL PEPTIDE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

AGED; AMINO TERMINAL SEQUENCE; ARTICLE; BIOSYNTHESIS; CASE REPORT; CELL STRAIN COS1; CELL STRAIN HEK293; ENZYME RELEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN SECRETION; PROTEIN SYNTHESIS; SIGNAL TRANSDUCTION; WEILL MARCHESANI SYNDROME;

ADAM PROTEINS; AGED, 80 AND OVER; ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; GROWTH DISORDERS; HUMANS; MUTATION; PROTEIN SORTING SIGNALS; PROTEIN STRUCTURE, TERTIARY; SYNDROME;

EID: 57149101542     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20797     Document Type: Article

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