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Article

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

Journal of medical genetics - 1 Mar 2016

Davids Mariska, Kane Megan S, He Miao, Wolfe Lynne A, Li Xueli, Raihan Mohd A, Chao Katherine R, Bone William P, Boerkoel Cornelius F, Gahl William A, Toro Camilo

Abstract excerpt

BACKGROUND: Mutations in PLA2G6, which encodes the calcium-independent phospholipase A2 group VI, cause neurodegeneration and diffuse cortical Lewy body formation by a yet undefined mechanism. We assessed whether altered protein glycosylation due to abnormal Golgi morphology might be a factor in the pathology of this disease. METHODS: Three patients presented with PLA2G6-associated neurodegeneration (PLAN); two...

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Identifiers

PMID: 26668131
DOI: 10.1136/jmedgenet-2015-103338
PMCID: PMC5535303

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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