×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
19205068
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.
17095157
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
MGD
Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons.
12930822
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons.
23751051
2013
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
BEFREE
Parkin protein was absent in all regions of the brains of patients with AR-JP .
10319893
1999
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Mutations in the parkin gene are a common cause of autosomal recessive juvenile parkinsonism (AR-JP ) but their role in idiopathic Parkinson's disease (PD) is not clear.
16019250
2005
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
19801972
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
9560156
1998
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism .
9560156
1998
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Therapeutic
CTD_human
Parkin disease: a phenotypic study of a large case series.
12764051
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
CLINVAR
Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism.
15090472
2004
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
12112109
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Autosomal-recessive juvenile parkinsonism (AR-JP ) is caused by mutations in the parkin gene.
12846978
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Autosomal-recessive juvenile Parkinsonism (ARJP ) is caused by mutations in the PARK2 gene coding for parkin and constitutes the most common familial form of PD.
15249681
2004
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations.
20798600
2010
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
BEFREE
Studied families were selected for (1) affected sibling pairs sharing 2 alleles identical by state at PARK2 (D6S305 ) or (2) 1 or more family members with onset age younger than 54 years, regardless of D6S305 status.
16769863
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Homozygous deletions and large heterozygous deletions have been observed in PARK2 in ARJP patients.
12874785
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
25815004
2015
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
19229105
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
10939576
2000
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
CTD_human
Parkin protects against neurotoxicity in the 6-hydroxydopamine rat model for Parkinson's disease.
16914382
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
BEFREE
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2 ) is characterized by an early onset parkinsonism, often presenting with dystonia as an early feature.
15635662
2005
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
CLINVAR
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
21996382
2012
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia.
19491146
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Therapeutic
CTD_human
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
10072423
1999