Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1

Human Molecular Genetics

Volumn 16, Issue 8, 2007, Pages 907-918

  Whiteman, Pat ^a   Willis, Antony C ^b   Warner, Andrew ^a   Brown, James ^a   Redfield, Christina ^a   Handford, Penny A ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; CALCIUM ION; EPIDERMAL GROWTH FACTOR; FIBRILLIN 1; MUTANT PROTEIN; TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 3; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CALCIUM BINDING; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FIBROBLAST CULTURE; HUMAN; HUMAN CELL; IN VITRO STUDY; MARFAN SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN SECRETION; PROTEIN SYNTHESIS; TANDEM REPEAT; WILD TYPE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BINDING SITES; CALCIUM; CELLS, CULTURED; ENDOPLASMIC RETICULUM; EPIDERMAL GROWTH FACTOR; HUMANS; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN STRUCTURE, TERTIARY;

EID: 34447525393     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm035     Document Type: Article

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