Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
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The Guanine nucleotide exchange factor kalirin-7 is a novel synphilin-1 interacting protein and modifies synphilin-1 aggregate transport and formationSynphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patientsGenetics of Parkinson diseaseNUB1 suppresses the formation of Lewy body-like inclusions by proteasomal degradation of synphilin-1Beta-synuclein gene alterations in dementia with Lewy bodies.Genetically engineered mouse models of Parkinson's diseaseSubgroup-specific structural variation across 1,000 medulloblastoma genomesParkinson disease loci in the mid-western AmishAn evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseConsiderations on the role of environmental toxins in idiopathic Parkinson's disease pathophysiologySynphilin-1 enhances α-synuclein aggregation in yeast and contributes to cellular stress and cell death in a Sir2-dependent mannerSynphilin-1 attenuates neuronal degeneration in the A53T alpha-synuclein transgenic mouse modelDrosophila histone deacetylase 6 protects dopaminergic neurons against {alpha}-synuclein toxicity by promoting inclusion formation.Regulation of alpha-synuclein expression: implications for Parkinson's disease.Splicing variants of porcine synphilin-1Clinical approach to Parkinson's disease: features, diagnosis, and principles of management.Mitochondrial Quality Control via the PGC1α-TFEB Signaling Pathway Is Compromised by Parkin Q311X Mutation But Independently Restored by RapamycinSplicing: is there an alternative contribution to Parkinson's disease?Drug discovery in Parkinson's disease-Update and developments in the use of cellular models.Chronic dementing conditions, genomics, and new opportunities for nursing interventions.The dopaminergic nigrostriatal system and Parkinson's disease: molecular events in development, disease, and cell death, and new therapeutic strategies.Genetics of Parkinson disease.Review: Familial Parkinson's disease--genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease.Molecular pathology of Lewy body diseases.Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease.Allosteric function and dysfunction of the prion protein.Parkinson's disease: from genetics to treatments.Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients.Parkinson's disease: genetics and beyond.Monoubiquitylation of alpha-synuclein by seven in absentia homolog (SIAH) promotes its aggregation in dopaminergic cells.Genetics of Parkinson's disease and parkinsonism.Glycogen synthase kinase 3beta modulates synphilin-1 ubiquitylation and cellular inclusion formation by SIAH: implications for proteasomal function and Lewy body formation.Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).Merging mouse transcriptome analyses with Parkinson's disease linkage studies.In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1.Effect of proteasome inhibitors with different chemical structures on the ubiquitin-proteasome system in vitro.Size and morphology of toxic oligomers of amyloidogenic proteins: a case study of human stefin B.Caspase-3-derived C-terminal product of synphilin-1 displays antiapoptotic function via modulation of the p53-dependent cell death pathway.Rare Neurodegenerative Diseases: Clinical and Genetic Update.
P2860
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P2860
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Identification and functional ...... -1 gene in Parkinson's disease
@ast
Identification and functional ...... -1 gene in Parkinson's disease
@en
Identification and functional ...... -1 gene in Parkinson's disease
@nl
type
label
Identification and functional ...... -1 gene in Parkinson's disease
@ast
Identification and functional ...... -1 gene in Parkinson's disease
@en
Identification and functional ...... -1 gene in Parkinson's disease
@nl
prefLabel
Identification and functional ...... -1 gene in Parkinson's disease
@ast
Identification and functional ...... -1 gene in Parkinson's disease
@en
Identification and functional ...... -1 gene in Parkinson's disease
@nl
P2093
P50
P356
P1476
Identification and functional ...... -1 gene in Parkinson's disease
@en
P2093
Carsten Holzmann
Dena Hernandez
Ellen Gerhardt
Frank P Marx
Jennifer Kachergus
Karsten M Strauss
Klaus Berger
Matt J Farrer
Olaf Eberhardt
P304
P356
10.1093/HMG/DDG134
P407
P577
2003-06-01T00:00:00Z