×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in PINK1 and PARKIN cause early-onset Parkinson's disease (PD ), thought to be due to mitochondrial toxicity.
27336715 2016
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
25939424 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
25815004 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in PARK2 result in autosomal recessive young onset Parkinson's disease (YOPD ).
25817512 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.
25591737 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.
25907632 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations of the PARK2 and PINK1 genes, encoding the cytosolic E3 ubiquitin-protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1, respectively, cause autosomal recessive early-onset Parkinson's disease (PD).
25591737 2015
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Parkin (PARK 2 ) mutations are rare in Czech patients with early-onset Parkinson's disease .
25238391 2014
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in PARK2 , PINK1, and DJ-1 have been associated with autosomal recessive early-onset Parkinson's disease .
24677602 2014
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Autosomal recessive early-onset Parkinson's disease is most often caused by mutations in the genes encoding the cytosolic E3 ubiquitin ligase Parkin and the mitochondrial serine/threonine kinase PINK1.
24878071 2014
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Parkinson protein 2, E3 ubiquitin protein ligase (PARK2 ) gene mutations are the most frequent causes of autosomal recessive early onset Parkinson's disease and juvenile Parkinson disease.25136611 2014
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Until now, there have been no reports of PARK2 mutations in a Uyghur family with EOPD .
24831986 2014
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
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
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing.
24167364 2013
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.
23531835 2013
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Homozygous germline mutations of the PARK2 gene are responsible for the development of early-onset Parkinson's disease (PD ).
22302706 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
PARK2 gene mutations in early onset Parkinson's disease patients of South India.22766139 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
Biomarker
BEFREE
A number of publications have attributed a tumor suppressive (TS) function to PARKIN , a gene associated with recessive familial early onset Parkinson's disease (EOPD ).
22927236 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
CausalMutation
CLINVAR
Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).
22555654 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease .
21534944 2012
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
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
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Early-onset Parkinson's disease (EOPD ) has been associated with recessive mutations in parkin (PARK2 ).21993715 2011
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS-resistant axial features.
21506149 2011
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
Biomarker
BEFREE
We conclude that CMCT is usually normal in idiopathic EOPD : we suggest that in presence of a prolonged CMCT the diagnosis of PARK2 should be considered.
20797900 2011
×
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
Young onset Parkinson disease
0.200
GeneticVariation
BEFREE
Mutations in the parkin gene are the most common genetic risk factor for EOPD and may offer information about the neuropsychological pattern of performance in both symptomatic and asymptomatic mutation carriers.
21092386 2011