Article
Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.
Neurobiology of aging - 1 Dec 2013
Foo Jia-Nee, Liany Herty, Bei Jin-Xin, Yu Xue-Qing, Liu Jianjun, Au Wing-Lok, Prakash Kumar M, Tan Louis C, Tan Eng-King
Abstract excerpt
To investigate the role of mutations in the sphingomyelin phosphodiesterase (SMPD1) gene in Parkinson's disease (PD) we sequenced all the exons of this gene in 198 Chinese PD cases and matched healthy control subjects. We identified 4 rare variants in SMPD1 (p.P332R, p.Y500H, p.P533L, and p.R591C) that were present only in cases and not in control subjects. Interestingly, 2 of these variants were previously...
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