Article
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.
Human molecular genetics - 18 Nov 2025
Kawatani Keiji, Baker Samantha K, Yaeger Jazmine D W, Anderson Ruthellen H, Ren Yingxue, Li Zonghua, Bao Hanmei, Han Xianlin, Francis Kevin R, Kanekiyo Takahisa
Abstract excerpt
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disorder characterized by congenital malformations, intellectual disability, and behavioral abnormalities. SLOS results from mutations in the DHCR7 gene, leading to impaired cholesterol biosynthesis due to dysregulation of 7-dehydrocholesterol reductase. Cholesterol plays crucial roles in neurophysiology, including synaptic formation and...
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