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Article

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.

Neurobiology of aging - 1 Sept 2020

Ouled Amar Bencheikh Bouchra, Senkevich Konstantin, Rudakou Uladzislau, Yu Eric, Mufti Kheireddin, Ruskey Jennifer A, Asayesh Farnaz, Laurent Sandra B, Spiegelman Dan, Fahn Stanley, Waters Cheryl, Monchi Oury, Dauvilliers Yves, Espay Alberto J, Dupré Nicolas, Greenbaum Lior, Hassin-Baer Sharon, Rouleau Guy A, Alcalay Roy N, Fon Edward A, Gan-Or Ziv

Abstract excerpt

Biallelic variants in NPC1, a gene coding for a lysosomal transmembrane protein involved in cholesterol trafficking, may cause Niemann-Pick disease type C (NPC). A few cases of NPC1 variant carriers with Parkinson's disease (PD) have been reported. In addition, pathologic studies have demonstrated phosphorylated alpha-synuclein and Lewy pathology in brains of NPC patients. Therefore, we aimed to examine whether...

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Identifiers

PMID: 32371106
DOI: 10.1016/j.neurobiolaging.2020.03.021
PMCID: PMC7302975

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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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