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Article

DHCR7 links cholesterol synthesis with neuronal development and axonal integrity

12 Apr 2024

Abstract excerpt

The DHCR7 enzyme converts 7-DHC into cholesterol. Mutations in DHCR7 can block cholesterol production, leading to abnormal accumulation of 7-DHC and causing Smith–Lemli–Opitz syndrome (SLOS). SLOS is an autosomal recessive disorder characterized by multiple malformations, including microcephaly, intellectual disability, behavior reminiscent of autism, sleep disturbances, and attention-deficit/hyperactivity...

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PMID: 38626530
DOI: 10.1016/j.bbrc.2024.149932

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