|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity.
|
23792957 |
2013 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
DJ-1 associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes.
|
23847046 |
2013 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human DJ-1 and its homologs are novel glyoxalases.
|
22523093 |
2012 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
|
19229105 |
2009 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6.
|
17846173 |
2007 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
|
15365989 |
2004 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
|
15254937 |
2004 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1.
|
14607841 |
2004 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The role of pathogenic DJ-1 mutations in Parkinson's disease.
|
12953260 |
2003 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.
|
14713311 |
2003 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
|
12446870 |
2003 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.700 |
GeneticVariation
|
UNIPROT |
L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system.
|
12851414 |
2003 |
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The results show that expression of DJ-1 enhances the cells' protective mechanisms against induced metal toxicity and that this protection is lost for DJ-1 PD mutations A104T and D149A.
|
23792957 |
2013 |
|
Young onset Parkinson disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Loss-of-function mutations such as L166P, A104T, and M26I in the DJ-1 gene (PARK7) have been linked to autosomal-recessive early onset Parkinson's disease (PD).
|
20527929 |
2010 |
|
Parkinson Disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Both homozygous (L166P, M26I, deletion) and heterozygous mutations (D149A, A104T) in the DJ-1 gene have been identified in Parkinson's disease (PD) patients.
|
15944198 |
2005 |
|
Young onset Parkinson disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes.
|
15254937 |
2004 |
|
Parkinsonian Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study we show that three different Parkinsonism-associated DJ-1 missense mutations (A104T, E163K, and M26I) reduce the thermal stability of DJ-1 in solution by subtly perturbing the structure of DJ-1 without causing major folding defects or loss of dimerization.
|
18181649 |
2008 |
|
Childhood Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To further investigate whether pathogenic mutations might prevent the distribution of DJ-1 to mitochondria, we generated human neuroblastoma cells stably transfected with wild-type (WT) or mutant (M26I, L166P, A104T, D149A) DJ-1 and performed mitochondrial fractionation and confocal co-localization imaging studies.
|
15944198 |
2005 |
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To further investigate whether pathogenic mutations might prevent the distribution of DJ-1 to mitochondria, we generated human neuroblastoma cells stably transfected with wild-type (WT) or mutant (M26I, L166P, A104T, D149A) DJ-1 and performed mitochondrial fractionation and confocal co-localization imaging studies.
|
15944198 |
2005 |
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
To further investigate whether pathogenic mutations might prevent the distribution of DJ-1 to mitochondria, we generated human neuroblastoma cells stably transfected with wild-type (WT) or mutant (M26I, L166P, A104T, D149A) DJ-1 and performed mitochondrial fractionation and confocal co-localization imaging studies.
|
15944198 |
2005 |
|
PARKINSON DISEASE, LATE-ONSET
|
|
0.010 |
GeneticVariation
|
BEFREE |
Both homozygous (L166P, M26I, deletion) and heterozygous mutations (D149A, A104T) in the DJ-1 gene have been identified in Parkinson's disease (PD) patients.
|
15944198 |
2005 |