Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.neurobiolaging.2013.06.010
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dc.titleA rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
dc.contributor.authorFoo, J.-N.
dc.contributor.authorLiany, H.
dc.contributor.authorBei, J.-X.
dc.contributor.authorYu, X.-Q.
dc.contributor.authorLiu, J.
dc.contributor.authorAu, W.-L.
dc.contributor.authorPrakash, K.M.
dc.contributor.authorTan, L.C.
dc.contributor.authorTan, E.-K.
dc.date.accessioned2014-11-26T08:26:19Z
dc.date.available2014-11-26T08:26:19Z
dc.date.issued2013-12
dc.identifier.citationFoo, J.-N., Liany, H., Bei, J.-X., Yu, X.-Q., Liu, J., Au, W.-L., Prakash, K.M., Tan, L.C., Tan, E.-K. (2013-12). A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease. Neurobiology of Aging 34 (12) : 2890e13-2890e15. ScholarBank@NUS Repository. https://doi.org/10.1016/j.neurobiolaging.2013.06.010
dc.identifier.issn01974580
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/109901
dc.description.abstractTo 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 reported in Chinese Niemann-Pick disease patients. Next, we genotyped these variants in another 806 PD cases and 7481 control subjects. We identified a novel, rare SMPD1 variant (p.R591C) which increased the risk of PD (p= 0.009). © 2013 Elsevier Inc.
dc.description.urihttp://libproxy1.nus.edu.sg/login?url=http://dx.doi.org/10.1016/j.neurobiolaging.2013.06.010
dc.sourceScopus
dc.subjectGene
dc.subjectLysosomal storage disorder Association
dc.subjectParkinson's disease
dc.typeArticle
dc.contributor.departmentDUKE-NUS GRADUATE MEDICAL SCHOOL S'PORE
dc.description.doi10.1016/j.neurobiolaging.2013.06.010
dc.description.sourcetitleNeurobiology of Aging
dc.description.volume34
dc.description.issue12
dc.description.page2890e13-2890e15
dc.description.codenNEAGD
dc.identifier.isiut000326657800025
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