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Article

Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.

Human molecular genetics - 1 Apr 2010

Jiang Xiao-Sheng, Wassif Christopher A, Backlund Peter S, Song Li, Holtzclaw Lynne A, Li Zheng, Yergey Alfred L, Porter Forbes D

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome with neurocognitive deficits due to mutations of DHCR7 that impair the reduction of 7-dehydrocholesterol to cholesterol. To investigate the pathological processes underlying the neurocognitive deficits, we compared protein expression in Dhcr7(+/+) and Dhcr7(Delta3-5/Delta3-5) brain tissue. One of the proteins identified was cofilin-1, an actin...

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Identifiers

PMID: 20067919
DOI: 10.1093/hmg/ddq011
PMCID: PMC2838542

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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