Alterations in membrane caveolae and BK Ca channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome

Molecular Genetics and Metabolism

Volumn 104, Issue 3, 2011, Pages 346-355

  Ren, Gongyi ^a   Jacob, Robert F ^b,c   Kaulin, Yuri ^c   DiMuzio, Paul ^b,c   Xie, Yi ^a,i   Mason, R Preston ^b,c,d   Tint, G Stephen ^e,f   Steiner, Robert D ^g   Roullet, Jean Baptiste ^g   Merkens, Louise ^g   Whitaker Menezes, Diana ^c   Frank, Philippe G ^c   Lisanti, Michael P ^c   Cox, Robert H ^h   Tulenko, Thomas N ^a  

^a UMDNJ Robert Wood Johnson Medical School at Camden   (United States)

^b ELUCIDA RESEARCH LLC   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h LANKENAU INSTITUTE FOR MEDICAL RESEARCH   (United States)

ⁱ NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

hydroxy steroid 7 reductase (DHCR7); 7 dehydrocholesterol; Birth defects; Caveolin 1; Lipid rafts; Membrane structure function

Indexed keywords

CHOLESTEROL; LARGE CONDUCTANCE CALCIUM ACTIVATED POTASSIUM CHANNEL; MESSENGER RNA; STEROL;

ARTICLE; CAVEOLA; CELL ISOLATION; CHOLESTEROL SYNTHESIS; CONTROLLED STUDY; HUMAN; MEMBRANE STRUCTURE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; RAT; SKIN FIBROBLAST; SMITH LEMLI OPITZ SYNDROME;

CAVEOLAE; CAVEOLIN 1; CELLS, CULTURED; DEHYDROCHOLESTEROLS; FIBROBLASTS; GENOTYPE; HUMANS; IMMUNOBLOTTING; LARGE-CONDUCTANCE CALCIUM-ACTIVATED POTASSIUM CHANNEL ALPHA SUBUNITS; MEMBRANES, ARTIFICIAL; MICROSCOPY, ELECTRON; MOLECULAR STRUCTURE; SKIN; SMITH-LEMLI-OPITZ SYNDROME; STEROLS; X-RAY DIFFRACTION;

EID: 82455208931     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.04.019     Document Type: Article

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