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Article

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.

Biochimica et biophysica acta - 5 Jun 1991

Vanier M T, Rodriguez-Lafrasse C, Rousson R, Gazzah N, Juge M C, Pentchev P G, Revol A, Louisot P

Abstract excerpt

To investigate biochemical heterogeneity within Niemann-Pick type C disease (NPC), the two most characteristic abnormalities, namely (1) kinetics of LDL-stimulated cholesteryl ester formation and (2) intravesicular accumulation of LDL-derived unesterified cholesterol, evaluated by histochemical filipin staining, were studied in cultured skin fibroblasts from a population of 125 NPC patients. Profound alterations...

Topics

Adolescent
Adult
Cells, Cultured
Child
Child, Preschool
Cholesterol Esters
Cholesterol, LDL
Esterification
Histocytochemistry
Homeostasis
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kinetics

Niemann-Pick Diseases

Phenotype

Sphingomyelin Phosphodiesterase

Source

Identifiers

PMID: 2065104
DOI: 10.1016/0925-4439(91)90069-l

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2065104-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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