Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

Mutation of the 3β-hydroxysterol Δ(7)-reductase gene (Dhcr7 (−/−)) results in Smith-Lemli-Opitz syndrome (SLOS). Patients, and genetically altered mice, are unable to produce cholesterol and accumulate 7-dehydrocholesterol (DHC) in serum and tissue. This causes multiple growth and developmental abno...

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Detalles Bibliográficos
Autores principales: Kovarova, Martina, Wassif, Christopher A., Odom, Sandra, Liao, Katherine, Porter, Forbes D., Rivera, Juan
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2006
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2121200/
https://www.ncbi.nlm.nih.gov/pubmed/16618793
http://dx.doi.org/10.1084/jem.20051701

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2121200/
https://www.ncbi.nlm.nih.gov/pubmed/16618793
http://dx.doi.org/10.1084/jem.20051701

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