Mutations near amino end of α1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing

Journal of Biological Chemistry

Volumn 280, Issue 19, 2005, Pages 19259-19269

  Cabral, Wayne A ^a   Makareeva, Elena ^a   Colige, Alain ^b   Letocha, Anne D ^a   Ty, Jennifer M ^a,e   Yeowell, Heather N ^c   Pals, Gerard ^d   Leikin, Sergey ^a   Marini, Joan C ^a  

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

^b UNIVERSITY OF LIÈGE   (Belgium)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; BIOASSAY; LIVING SYSTEMS STUDIES; PATIENT MONITORING; THERMODYNAMIC STABILITY;

EHLERS-DANLOS SYNDROME (EDS); OSTEOGENESIS IMPERFECTA (OI) PATIENTS; PN-COLLEGEN; SKELETAL FRAGILITY;

COLLAGEN;

COLLAGEN FIBRIL; COLLAGEN TYPE 1; COLLAGEN TYPE 1 ALPHA1; MUTANT PROTEIN; PROCOLLAGEN; PROCOLLAGEN AMINO TERMINAL PROPEPTIDE; PROTEIN ADAMTS 2; PROTEINASE; UNCLASSIFIED DRUG; ADAM PROTEIN; AGGRECANASE 1; AGGRECANASE-1; COLLAGEN; CROSS LINKING REAGENT; PEPTIDE; PROCOLLAGEN N PROTEINASE;

ARTICLE; BONE FRAGILITY; CONTROLLED STUDY; CROSS LINKING; DIFFERENTIAL SCANNING CALORIMETRY; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; ENZYME ACTIVE SITE; EXTRACELLULAR MATRIX; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; IN VITRO STUDY; JOINT LAXITY; NUCLEOTIDE SEQUENCE; OSTEOBLAST; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN PROCESSING; PROTEIN SECONDARY STRUCTURE; PROTEIN STABILITY; SCOLIOSIS; THERMOSTABILITY; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CELL CULTURE; CHEMISTRY; CYTOLOGY; FEMALE; GENETICS; HEAT; INFANT; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN TERTIARY STRUCTURE; SEQUENCE HOMOLOGY; SKIN; TIME; TRANSMISSION ELECTRON MICROSCOPY;

ADAM PROTEINS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CALORIMETRY, DIFFERENTIAL SCANNING; CELLS, CULTURED; CHILD, PRESCHOOL; COLLAGEN; COLLAGEN TYPE I; CROSS-LINKING REAGENTS; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXTRACELLULAR MATRIX; FEMALE; FIBROBLASTS; HEAT; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOBLASTS; OSTEOGENESIS IMPERFECTA; PEPTIDES; PHENOTYPE; PROCOLLAGEN N-ENDOPEPTIDASE; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; SKIN; TIME FACTORS;

EID: 21444439013     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M414698200     Document Type: Article

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