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Article

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.

International journal of molecular sciences - 11 Apr 2024

Farhat Nicole Y, Alexander Derek, McKee Kyli, Iben James, Rodriguez-Gil Jorge L, Wassif Christopher A, Cawley Niamh X, Balch William E, Porter Forbes D

Abstract excerpt

Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same NPC1 genotype, thus suggesting a significant effect of modifier genes. Prior work demonstrated that decreased SOAT1 activity decreased disease severity in an NPC1 mouse model. Thus, we hypothesized...

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Identifiers

PMID: 38673803
DOI: 10.3390/ijms25084217
PMCID: PMC11050712

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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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