Global defects in the expression and function of the low density lipoprotein receptor (LDLR) associated with two familial hypercholesterolemia mutations resulting in misfolding of the LDLR epidermal growth factor-AB pair

Journal of Biological Chemistry

Volumn 279, Issue 29, 2004, Pages 30611-30621

  Boswell, Emma J ^a   Jeon, Hyesung ^b   Blacklow, Stephen C ^b   Downing, A Kristina ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; CALCIUM; MUTAGENESIS; NUCLEAR MAGNETIC RESONANCE;

EPIDERMAL GROWTH; GLOBAL DEFECTS;

PROTEINS;

CHOLESTEROL; EPIDERMAL GROWTH FACTOR; LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR;

ANIMAL CELL; ARTICLE; BINDING SITE; CALCIUM BINDING; CELL SURFACE; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; IN VITRO STUDY; IN VIVO STUDY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STRUCTURE; SITE DIRECTED MUTAGENESIS;

BINDING SITES; BLOTTING, WESTERN; CALCIUM; CELL LINE; CELL MEMBRANE; CHELATING AGENTS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EPIDERMAL GROWTH FACTOR; FLOW CYTOMETRY; HUMANS; HYDROGEN-ION CONCENTRATION; HYPERCHOLESTEROLEMIA; KINETICS; LIGANDS; MAGNETIC RESONANCE SPECTROSCOPY; MODELS, MOLECULAR; MUTATION; PLASMIDS; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, LDL; TIME FACTORS;

ANIMALIA;

EID: 3142724817     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M401412200     Document Type: Article

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