Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
about
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's diseaseGenetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)Towards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examplesGaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathiesReduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's diseaseGlucocerebrosidase is shaking up the synucleinopathiesImputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studiesMolecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370SA mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseThe Genetic Basis of Cognitive Impairment and Dementia in Parkinson's DiseaseThe prediagnostic phase of Parkinson's diseaseThe clinical management of Type 2 Gaucher diseaseCatecholamine autotoxicity. Implications for pharmacology and therapeutics of Parkinson disease and related disordersTargeting heat shock proteins to modulate α-synuclein toxicityGenetics of Parkinson's diseaseParkinson's disease, insulin resistance and novel agents of neuroprotectionThe genetics and neuropathology of Parkinson's diseaseThe role of saposin C in Gaucher diseaseGaucher disease and comorbidities: B-cell malignancy and parkinsonismGlucocerebrosidase and Parkinson disease: Recent advancesGenetics of Parkinson's disease - a clinical perspectiveProtein degradation pathways in Parkinson's disease: curse or blessingGlucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell deathViable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synucleiniPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's diseaseParkinson's disease dementia: convergence of α-synuclein, tau and amyloid-β pathologies.TFEB at a glanceThe relationship between glucocerebrosidase mutations and Parkinson diseaseLRRK2 at the interface of autophagosomes, endosomes and lysosomesUsefulness of Genetic Testing in PD and PD Trials: A Balanced ReviewMitochondrial dysfunction associated with glucocerebrosidase deficiencyLoss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cellsATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neuronsThe p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseLysosomal integral membrane protein-2: a new player in lysosome-related pathologyAmbroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cellsGaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imigluceraseNiemann-Pick C disease gene mutations and age-related neurodegenerative disordersTool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates
P2860
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P2860
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
@nl
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
@ast
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
@en
type
label
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
@nl
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
@ast
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
@en
prefLabel
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
@nl
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
@ast
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
@en
P2093
P2860
P50
P3181
P356
P1476
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
@en
P2093
A Bar-Shira
A Griffith
A Mirelman
A R Troiano
A Singleton
C Condroyer
P2860
P304
P3181
P356
10.1056/NEJMOA0901281
P407
P50
P577
2009-10-01T00:00:00Z