Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

Human Mutation

Volumn 26, Issue 6, 2005, Pages 557-565

  Cotterill, Sally L ^a   Jackson, Gail C ^a   Leighton, Matthew P ^a   Wagener, Raimund ^b   Mäkitie, Outi ^c   Cole, William G ^d   Briggs, Michael D ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF HELSINKI   (Finland)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Cartilage; Chaperone protein; Chondrodysplasias; Disease mechanism; Gene mutation; Matrilin 3; Multiple epiphyseal dysplasia; Protein misfolding

Indexed keywords

CHAPERONE; MATRILIN 3; MUTANT PROTEIN; PROTEIN ERP72; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTHRALGIA; ARTICLE; CARTILAGE CELL; CHONDRODYSPLASIA; DISULFIDE BOND; GENE; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; JOINT STIFFNESS; JUVENILE RHEUMATOID ARTHRITIS; MATN3 GENE; MICROSCOPY; MULTIPLE EPIPHYSEAL DYSPLASIA; NONHUMAN; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN STRUCTURE; ROUGH ENDOPLASMIC RETICULUM; SHORT STATURE;

ANIMALS; CHO CELLS; CHONDROCYTES; CLONING, MOLECULAR; CRICETINAE; CRICETULUS; ENDOPLASMIC RETICULUM, ROUGH; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY;

ANIMALIA; MAMMALIA;

EID: 28844457260     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20263     Document Type: Article

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