Alterations in Membrane Caveolae and BK(Ca) Channel Activity in Skin Fibroblasts in Smith-Lemli-Opitz Syndrome

The Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol synthesis caused by mutations in DHCR7 which encodes the final enzyme in the cholesterol synthesis pathway. The immediate precursor to cholesterol synthesis, 7-dehydrocholesterol (7-DHC) accumulates in the plasma and cells...

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Detalhes bibliográficos
Main Authors: Ren, Gongyi, Jacob, Robert F., Kaulin, Yuri, DiMuzio, Paul, Xie, Yi, Mason, R. Preston, Tint, G. Stephen, Steiner, Robert D., Roulett, Jean-Baptiste, Merkens, Louise, Whitaker-Mendez, Diana, Frank, Phillipe G., Lisanti, Michael, Cox, Robert H., Tulenko, Thomas N.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3365561/
https://ncbi.nlm.nih.gov/pubmed/21724437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.04.019
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