Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease.

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Neurobiology of Aging

• Publication date

  2013-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.neurobiolaging.2013.06.010PMID 23871123
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

  2013cited by this paper
• The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

  2013cited by this paper
• Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

  2007cited by this paper
• Pathogenic mutations in Parkinson disease

  2007cited by this paper
• Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

  2004cited by this paper
• SIFT: predicting amino acid changes that affect protein function

  2003cited by this paper

• Proteome Landscapes Decode Organelle Vulnerabilities in cortical and dopaminergic-like induced neurons Across Lysosomal Storage Disorders

  2025cites this paper
• The brain and heart-axis in neurodegeneration and cardiovascular disease.

  2025cites this paper
• Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases

  2025cites this paper
• Restoration of Lysosomal Hydrolase Activities by LRRK2 Inhibition in GBA1‐ and LRRK2‐Associated Parkinson's Disease Patient‐Derived Cells

  2025cites this paper
• Plasma lipidome, circulating inflammatory proteins, and Parkinson’s disease: a Mendelian randomization study

  2024cites this paper
• Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy

  2024cites this paper
• The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene.

  2024cites this paper
• Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk

  2024cites this paper
• Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview

  2023cites this paper
• Promising biomarkers and therapeutic targets for the management of Parkinson's disease: recent advancements and contemporary research

  2023cites this paper
• Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency

  2023cites this paper
• Disease mechanisms as subtypes: Lysosomal dysfunction in the endolysosomal Parkinson's disease subtype.

  2023cites this paper
• SGMS2 in primary osteoporosis with facial nerve palsy

  2023cites this paper
• Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson's disease

  2023cites this paper
• LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.

  2023cites this paper
• The endo-lysosomal system in Parkinson's disease: expanding the horizon.

  2023cites this paper
• Cognitive heterogeneity in Parkinson's disease: A mechanistic view.

  2023cites this paper
• The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.

  2023cites this paper
• Human Brain Lipidomics: Pilot Analysis of the Basal Ganglia Sphingolipidome in Parkinson’s Disease and Lewy Body Disease

  2022cites this paper
• Impaired Sphingolipid Hydrolase Activities in Dementia with Lewy Bodies and Multiple System Atrophy

  2022cites this paper
• From lysosomal storage disorders to Parkinson's Disease - Challenges and opportunities.

  2022cites this paper
• Plasma sphingolipid abnormalities in neurodegenerative diseases

  2022cites this paper
• Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

  2022cites this paper
• ReviewEmerging Therapeutic Strategies for Parkinson's Disease and Future Prospects: A

  2022cites this paper
• Emerging Therapeutic Strategies for Parkinson’s Disease and Future Prospects: A 2021 Update

  2022cites this paper
• The Association Between Lysosomal Storage Disorder Genes and Parkinson’s Disease: A Large Cohort Study in Chinese Mainland Population

  2021cites this paper
• Lysosomal Storage Disorders

  2021cites this paper
• Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease?

  2021cites this paper
• Shared genetic etiology between Parkinson’s disease and blood levels of specific lipids

  2021cites this paper
• Alteration in the Cerebrospinal Fluid Lipidome in Parkinson’s Disease: A Post-Mortem Pilot Study

  2021cites this paper
• α-Synuclein Aggregation and Propagation in the Pathomechanisms of Parkinson’s Disease

  2021cites this paper
• Development of Early Diagnosis of Parkinson’s Disease Using Premotor Symptoms and Blood Changes as Biomarkers

  2021cites this paper
• Alteration in the cerebrospinal fluid lipidome in Parkinson´s disease: A pilot study

  2021cites this paper
• A Practical Approach to Early-Onset Parkinsonism

  2021cites this paper
• Parkinson’s Disease-Related Genes and Lipid Alteration

  2021cites this paper
• Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson’s Disease in a Chinese Cohort

  2021influential citation
• Ceramide Metabolism and Parkinson’s Disease—Therapeutic Targets

  2021cites this paper
• SMPD1 variants do not have a major role in REM sleep behavior disorder

  2020cites this paper
• Understanding the Links Between Cardiovascular Disease and Parkinson's Disease

  2020cites this paper
• [Development of early diagnosis of Parkinson's disease based on the search for biomarkers such as premotor symptoms and changes in blood].

  2020cites this paper
• Probiotic Bacillus subtilis Protects against α-Synuclein Aggregation in C. elegans

  2020influential citation
• The Emerging Role of the Lysosome in Parkinson’s Disease

  2020cites this paper
• Integrated Analyses of Microbiome and Longitudinal Metabolome Data Reveal Microbial-Host Interactions on Sulfur Metabolism in Parkinson’s Disease

  2020cites this paper
• LRRK2-Related Parkinson’s Disease Due to Altered Endolysosomal Biology With Variable Lewy Body Pathology: A Hypothesis

  2020cites this paper
• Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson’s disease pathogenesis

  2020cites this paper
• Integrated Analyses of Microbiome and Longitudinal Metabolome Data Reveal Microbial-Host Interactions on Sulfur Metabolism in Parkinson’s Disease

  2019cites this paper
• The Role of Ceramide and Sphingosine-1-Phosphate in Alzheimer’s Disease and Other Neurodegenerative Disorders

  2019cites this paper
• The Role of Lipids in Parkinson’s Disease

  2019cites this paper
• Emerging links between pediatric lysosomal storage diseases and adult parkinsonism

  2019cites this paper
• SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

  2019cites this paper
• Lysosomal enzyme activities as possible CSF biomarkers of synucleinopathies.

  2019cites this paper
• The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism

  2019cites this paper
• Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone.

  2019cites this paper
• Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson’s disease

  2019cites this paper
• Lipid Analysis of the 6-Hydroxydopamine-Treated SH-SY5Y Cell Model for Parkinson’s Disease

  2019cites this paper
• Do heterozygous mutations of Niemann–Pick type C predispose to late-onset neurodegeneration: a review of the literature

  2019cites this paper
• Lysosomes and Brain Health.

  2018cites this paper
• Ganoderma lucidum extract ameliorates MPTP-induced parkinsonism and protects dopaminergic neurons from oxidative stress via regulating mitochondrial function, autophagy, and apoptosis

  2018cites this paper
• Lysosome biogenesis in health and disease

  2018cites this paper
• Alpha galactosidase A activity in Parkinson's disease.

  2018cites this paper
• Genetic Forms of Parkinson's Disease

  2017cites this paper
• Lysosomal Proteins as a Therapeutic Target in Neurodegeneration.

  2017cites this paper
• Types A and B Niemann-Pick disease.

  2017cites this paper
• Parkinson's disease prevalence in Fabry disease: A survey study

  2017cites this paper
• Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases

  2017cites this paper
• Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

  2017cites this paper
• Therapeutic potential of autophagy-enhancing agents in Parkinson’s disease

  2017cites this paper
• SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease.

  2017cites this paper
• A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells

  2017cites this paper
• What lysosomes actually tell us about Parkinson's disease?

  2016cites this paper
• Regulation of sphingomyelin metabolism

  2016cites this paper
• Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson’s Disease

  2016influential citation
• Lysosomal Dysfunction and α‐Synuclein Aggregation in Parkinson's Disease: Diagnostic Links

  2016cites this paper
• SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

  2016cites this paper
• Dissecting the Genetic Basis of Parkinson Disease, Dystonia and Chorea

  2016cites this paper
• From rare to common and back again: 60years of lysosomal dysfunction.

  2016cites this paper
• LRRK2 deficiency impacts ceramide metabolism in brain.

  2016cites this paper
• Secretory sphingomyelinase in health and disease

  2015cites this paper
• Expression of Parkinson's disease and associated neurophenotypes in 22q11.2 deletion syndrome

  2015cites this paper
• The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews.

  2015cites this paper
• The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies.

  2015cites this paper
• Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

  2015cites this paper
• Types A and B Niemann-Pick disease.

  2015cites this paper
• Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.

  2015cites this paper
• Association study between SMPD1 p.L302P and sporadic Parkinson's disease in ethnic Chinese population.

  2015cites this paper
• Comparative pathway and network analysis of brain transcriptome changes during adult aging and in Parkinson's disease.

  2015cites this paper
• Identification of genes involved in breast cancer and breast cancer stem cells

  2015cites this paper
• SMPD1 mutations and Parkinson disease.

  2015cites this paper
• Genetic Convergence of Parkinson’s Disease and Lysosomal Storage Disorders

  2014cites this paper
• Glucocerebrosidase is shaking up the synucleinopathies.

  2014cites this paper