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

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

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.We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 231 brain autopsies. Brai...

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Bibliographic Details
Main Authors: Lorraine N Clark, Robin Chan, Rong Cheng, Xinmin Liu, Naeun Park, Nancy Parmalee, Sergey Kisselev, Etty Cortes, Paola A Torres, Gregory M Pastores, Jean P Vonsattel, Roy Alcalay, Karen Marder, Lawrence L Honig, Stanley Fahn, Richard Mayeux, Michael Shelanski, Gilbert Di Paolo, Joseph H Lee
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4416714?pdf=render

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http://europepmc.org/articles/PMC4416714?pdf=render

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