7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

Smith-Lemli-Opitz/RSH syndrome (SLOS), a relatively common birth-defect mental-retardation syndrome, is caused by mutations in DHCR7, whose product catalyzes an obligate step in cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. A null mutation in the murine Dhcr7 cause...

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Autores principales: Fitzky, Barbara U., Moebius, Fabian F., Asaoka, Hitoshi, Waage-Baudet, Heather, Xu, Liwen, Xu, Guorong, Maeda, Nobuyo, Kluckman, Kimberly, Hiller, Sylvia, Yu, Hongwei, Batta, Ashok K., Shefer, Sarah, Chen, Thomas, Salen, Gerald, Sulik, Kathleen, Simoni, Robert D., Ness, Gene C., Glossmann, Hartmut, Patel, Shailendra B., Tint, G.S.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2001
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC200927/
https://ncbi.nlm.nih.gov/pubmed/11560960
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