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Article

Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

PloS one - 1 Jan 2015

Clark Lorraine N, Chan Robin, Cheng Rong, Liu Xinmin, Park Naeun, Parmalee Nancy, Kisselev Sergey, Cortes Etty, Torres Paola A, Pastores Gregory M, Vonsattel Jean P, Alcalay Roy, Marder Karen, Honig Lawrence L, Fahn Stanley, Mayeux Richard, Shelanski Michael, Di Paolo Gilbert, Lee Joseph H

Abstract excerpt

OBJECTIVE: Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis. METHODS: We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 2...

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Source

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Identifiers

PMID: 25933391
DOI: 10.1371/journal.pone.0125204
PMCID: PMC4416714

Genes

MCOLN1
SMPD1
HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25933391-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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