Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a recessive human disease caused by defective cholesterol (CHOL) synthesis at the level of DHCR7 (7-dehydrocholesterol reductase), which normally catalyzes the conversion of 7-dehydrocholesterol (7DHC) to CHOL. Formation and abnormal accumulation of 7DHC and 7DHC...

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Udgivet i:Sci Rep
Main Authors: Fliesler, Steven J., Peachey, Neal S., Herron, Josi, Hines, Kelly M., Weinstock, Nadav I., Ramachandra Rao, Sriganesh, Xu, Libin
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5775248/
https://ncbi.nlm.nih.gov/pubmed/29352199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-19592-8
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