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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Chang, Shaohua, Ren, Gongyi, Steiner, Robert D., Merkens, Louise, Roullet, Jean-Baptiste, Korade, Zeljka, DiMuzio, Paul J., Tulenko, Thomas N.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231544/
https://ncbi.nlm.nih.gov/pubmed/25405082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.09.005
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