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

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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Bibliographic Details
Main Authors: Shaohua Chang, Gongyi Ren, Robert D. Steiner, Louise Merkens, Jean-Baptiste Roullet, Zeljka Korade, Paul J. DiMuzio, Thomas N. Tulenko
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
7-Dehydrocholesterol
β-hydroxysterol-Δ7-reductase (DHCR7)
Birth defects
Lysosomes
Mitophagy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000639

Internet

http://www.sciencedirect.com/science/article/pii/S2214426914000639

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