PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
BEFREE |
While for patients with Parkinsonism, GCH1 mutation analysis should be performed after screening of genes like PARKIN, PARK7 (DJ-1) and PINK1.
|
27619486 |
2017 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
CTD_human |
BAG5 Interacts with DJ-1 and Inhibits the Neuroprotective Effects of DJ-1 to Combat Mitochondrial Oxidative Damage.
|
28348719 |
2017 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
BEFREE |
Several mutated genes have been found in familial PD patients, including SNCA (α-synuclein), PARK2 (parkin), PINK1, PARK7 (DJ-1), LRRK2 and ATP13A2 Many pathogenic mutations of PARK2, which encodes the ubiquitin E3 ligase parkin, result in loss of function, leading to accumulation of parkin substrates and consequently contributing to dopaminergic cell death.
|
27534820 |
2016 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
BEFREE |
PARK2, PINK1 and PARK7 (DJ-1), have been identified as responsible for the autosomal recessive form of early-onset Parkinson disease (EO-PD).
|
23986421 |
2013 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity.
|
23792957 |
2013 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
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
|
0.970 |
Biomarker
|
disease |
MGD |
Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease.
|
23019375 |
2012 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
BEFREE |
We screened 136 EOPD probands from a high-ascertainment regional and community-based prevalence study for pathogenic mutations in PARK2 (parkin), PINK1, PARK7 (DJ-1), and exon 41 of LRRK2.
|
22956510 |
2012 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Human DJ-1 and its homologs are novel glyoxalases.
|
22523093 |
2012 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
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
|
0.970 |
Biomarker
|
disease |
MGD |
Progressive behavioral deficits in DJ-1-deficient mice are associated with normal nigrostriatal function.
|
18187333 |
2008 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
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
|
0.970 |
Biomarker
|
disease |
MGD |
Absence of dopaminergic neuronal degeneration and oxidative damage in aged DJ-1-deficient mice.
|
17535435 |
2007 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
MGD |
Age-dependent motor deficits and dopaminergic dysfunction in DJ-1 null mice.
|
15799973 |
2005 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
MGD |
Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress.
|
15784737 |
2005 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
MGD |
Nigrostriatal dopaminergic deficits and hypokinesia caused by inactivation of the familial Parkinsonism-linked gene DJ-1.
|
15721235 |
2005 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
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
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Analyzing the PARK7/DJ1 gene in 104 EOPD patients, we identified a third mutation, c.192G>C (p.E64D), associated with EOPD in a patient of Turkish ancestry and characterized the functional significance of this amino acid substitution.
|
15365989 |
2004 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
|
15254937 |
2004 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Analyzing the PARK7/DJ1 gene in 104 EOPD patients, we identified a third mutation, c.192G>C (p.E64D), associated with EOPD in a patient of Turkish ancestry and characterized the functional significance of this amino acid substitution.
|
15365989 |
2004 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
BEFREE |
Finally it was confirmed that PARK6 and PARK7 (DJ-1), despite being phenotypically similar and mapping to the same small chromosomal region of 1p36, are caused by mutations in separate genes.
|
14707326 |
2004 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
BEFREE |
To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 (parkin), and PARK7 (DJ-1).
|
15717024 |
2004 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
The role of pathogenic DJ-1 mutations in Parkinson's disease.
|
12953260 |
2003 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
|
12446870 |
2003 |
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system.
|
12851414 |
2003 |