Article

Variants in the Niemann-Pick type C gene <i>NPC1</i> are not associated with Parkinson’s disease

2020-03-08

Abstract excerpt

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

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Literature Corpus work: afc412cd-cdf8-5b7c-8883-b3bc83cfcd11
DOI: 10.1101/2020.03.06.20030734

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