Associated Papers
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
Effect of PLA2G6 and SMPD1 Variants on the Lipid Metabolism in the Cerebrospinal Fluid of Patients with Parkinson's Disease: A Non-targeted Lipidomics Study.
Li Y et al.
Neurology and Therapy, 2023
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Alcalay RN et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
[Analysis of SMPD1 gene mutations in Chinese patients with Parkinson's disease].
Song N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease.
Mao CY et al.
Parkinsonism & Related Disorders, 2017
Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.
Deng S et al.
Molecular Neurobiology, 2016
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S et al.
Molecular Genetics and Metabolism, 2016
Crystal structure of mammalian acid sphingomyelinase.
Gorelik A et al.
Nature Communications, 2016
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
Rhein C et al.
International Journal of Molecular Sciences, 2015
Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).
Manshadi MD et al.
International Journal of Molecular Sciences, 2015
Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.
Lidove O et al.
Jimd Reports, 2015
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.
Clark LN et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
The common acid sphingomyelinase polymorphism p.G508R is associated with self-reported allergy.
Reichel M et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2014
Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.
Foo JN et al.
Neurobiology of Aging, 2013
Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol.
Dastani Z et al.
Bmc Medical Genetics, 2007
Treatment of hyperlipidemia associated with Niemann-Pick disease type B by fenofibrate.
Choi JH et al.
European Journal of Pediatrics, 2006
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
Cerón-Rodríguez M et al.
Annals of Hepatology, 0