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Article

Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse.

Molecular genetics and metabolism - 1 May 2007

Solcà Curzio, Pandit Bhaswati, Yu Hongwei, Tint G Stephen, Patel Shailendra B

Abstract excerpt

The Smith-Lemli-Opitz syndrome (SLOS) is caused by a genetic defect in cholesterol biosynthesis; mutations in the enzyme 3ss-hydroxysterol Delta7 reductase (Dhcr7) lead to a failure of cholesterol (and desmosterol) synthesis, with an accumulation of precursor sterols, such as 7-dehydrocholesterol. Extensive genotype-phenotype analyses have indicated that there is considerable variation in the severity of the...

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Source

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Identifiers

PMID: 17197219
DOI: 10.1016/j.ymgme.2006.11.009
PMCID: PMC1852500

Genes

APOE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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