Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome

Smith–Lemli–Opitz Syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. Herein we show that dermal fibroblasts obtained from SLOS children display increa...

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Detalles Bibliográficos
Autores principales: Chang, Shaohua, Ren, Gongyi, Steiner, Robert D., Merkens, Louise, Roullet, Jean-Baptiste, Korade, Zeljka, DiMuzio, Paul J., Tulenko, Thomas N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231544/
https://www.ncbi.nlm.nih.gov/pubmed/25405082
http://dx.doi.org/10.1016/j.ymgmr.2014.09.005

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