Condition: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
rs28938172 in
PARK7 gene and
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
PMID 15365989 2004 Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
PMID 14713311 2003 A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.
PMID 12953260 2003 The role of pathogenic DJ-1 mutations in Parkinson's disease.
PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
PMID 15254937 2004 Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
PMID 23792957 2013 Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity.
PMID 22523093 2012 Human DJ-1 and its homologs are novel glyoxalases.
PMID 12446870 2003 Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.
PMID 14607841 2004 Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1.
PMID 12851414 2003 L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system.
PMID 17846173 2007 Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6.
PMID 23847046 2013 DJ-1 associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes.
PMID 15365989 2004 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.