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

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

Abstract 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...

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Autores principales: Steven J. Fliesler, Neal S. Peachey, Josi Herron, Kelly M. Hines, Nadav I. Weinstock, Sriganesh Ramachandra Rao, Libin Xu
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/0f9352eaa4c44a5492915c722acf3157
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