|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity.
|
23792957 |
2013 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human DJ-1 and its homologs are novel glyoxalases.
|
22523093 |
2012 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
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
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
|
15365989 |
2004 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
|
15254937 |
2004 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system.
|
12851414 |
2003 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The role of pathogenic DJ-1 mutations in Parkinson's disease.
|
12953260 |
2003 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
|
12446870 |
2003 |
|
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
A PD-associated mutant of DJ-1 (M26I) lacked activity.
|
27556455 |
2016 |
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
Consequently, the peripheral cysteine mutants retained cytoprotective activity, whereas the PD-associated mutant [M26I]DJ-1 failed to suppress ASK1 activity and nuclear export of the death domain-associated protein Daxx and did not promote cytoprotection.
|
19293155 |
2009 |
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
Molecular dynamics calculations suggest that: (i) the structure of DJ-1 wild type (WT) in aqueous solution, in both oxidized and reduced forms, is similar to the crystal structure of the reduced form; (ii) the Parkinson disease-causing M26I variant is structurally similar to the WT, consistent with the experimental evidence showing the protein is a dimer as WT; (iii) R98Q is structurally similar to the WT, consistent with the fact that this is a physiological variant; and (iv) the L166P monomer rapidly evolves toward a conformation significantly different from WT, suggesting a change in its ability to oligomerize.
|
17504761 |
2007 |
|
Parkinson Disease
|
|
0.050 |
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 |
|
Parkinson Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
A homozygous M26I missense mutation was also recently reported in an Ashkenazi Jewish patient with early onset PD.
|
14713311 |
2003 |
|
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 |
|
Young onset Parkinson disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
By performing a yeast two-hybrid screening from a human fetal brain library, we identified TRAF and TNF receptor-associated protein (TTRAP), an ubiquitin-binding domain-containing protein, as a novel DJ-1 interactor, which was able to bind the PD-associated mutations M26I and L166P more strongly than wild type.
|
19023331 |
2009 |
|
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 |
|
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 |
|
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 |