7-Dehydrocholesterol–dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

Eitemau Tebyg

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• Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.
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• RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.
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• Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome
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• Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome
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  Cyhoeddwyd: (2010)