Defective C-propeptides of the proα2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

Journal of Biological Chemistry

Volumn 283, Issue 23, 2008, Pages 16061-16067

  Pace, James M ^a   Wiese, Mary ^a,d   Drenguis, Andrea S ^a   Kuznetsova, Natalia ^b   Leikin, Sergey ^b   Schwarze, Ulrike ^a   Chen, Diana ^a   Mooney, Suzanne H ^a,e   Unger, Sheila ^c   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c UNIVERSITY OF FREIBURG   (Germany)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e EPIGENOMICS AG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COVALENT BONDS; POPULATION STATISTICS; SULFUR COMPOUNDS;

C-TERMINAL PROPEPTIDE; CLINICAL FEATURES; HELICAL DOMAINS; MOLECULAR ASSEMBLY; OSTEOGENESIS IMPERFECTA; SKELETAL GROWTH; SMALL POPULATION; TYPE I PROCOLLAGEN;

GENES;

HETERODIMER; HOMODIMER; PROCOLLAGEN; PROTEIN COL1A2; PROTEIN PROALPHA2; UNCLASSIFIED DRUG; ALPHA 2(I) COLLAGEN; COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE I, ALPHA 1 CHAIN;

ADULT; ARTICLE; BONE GROWTH; CASE REPORT; CELL CULTURE; DISULFIDE BOND; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ASSEMBLY; PROTEIN CONFORMATION; PROTEIN INTERACTION; PROTEIN STABILITY; BONE DEVELOPMENT; CHILD; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; PROTEIN QUATERNARY STRUCTURE;

ADULT; BONE DEVELOPMENT; CHILD; COLLAGEN; COLLAGEN TYPE I; FEMALE; HUMANS; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PEDIGREE; PROTEIN STRUCTURE, QUATERNARY;

EID: 47049089675     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M801982200     Document Type: Article

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