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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
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.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker