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Article

<i>NPC1</i>variants are not associated with Parkinson’s Disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts

2022-11-08

Abstract excerpt

NPC1 encodes a lysosomal protein involved in cholesterol transport. Biallelic mutations in this gene may lead to Nieman-Pick disease type C, a lysosomal storage disorder. The role of NPC1 in alpha synucleinopathies is still unclear, as different genetic, clinical, and pathological studies have reported contradictory results. This study aimed to evaluate the association of NPC1 variants with the synucleinopathies P...

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Identifiers and source

Literature Corpus work
6ec67ac3-1458-5efd-a2c6-a9c29928590e
DOI
10.1101/2022.11.08.22281508
Open publication

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<i>NPC1</i>variants are not associated with Parkinson’s Disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohortsDOI 10.1101/2022.11.08.22281508
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