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Article

Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP.

Journal of clinical lipidology - 1 Jan 2000

Lee Ching Yin, Ruel Isabelle, Denis Maxime, Genest Jacques, Kiss Robert S

Abstract excerpt

BACKGROUND: Impairment of acid sphingomyelinase (SMase) results in accumulation of sphingomyelin (SM) and cholesterol in late endosomes, the hallmarks of a lysosomal storage disease. OBJECTIVE: We describe cellular lipid metabolism in fibroblasts from two patients with novel compound heterozygote mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene manifesting as Niemann-Pick disease type B (NPB) and...

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Source

Identifiers

PMID: 23415435
DOI: 10.1016/j.jacl.2012.02.006

Genes

NPB
ABCA1
SMPD1

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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