×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.
11163284
2001
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
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
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Association between early-onset Parkinson's disease and mutations in the parkin gene.
10824074
2000
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Complex relationship between Parkin mutations and Parkinson disease.
12116199
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
11971093
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase.
10888878
2000
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
12629236
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families.
12114481
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.
20889486
2011
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Molecular findings in familial Parkinson disease in Spain.
12056932
2002
×
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
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
GeneticVariation
UNIPROT
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
15584030
2005
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
11179010
2001
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease.
21376232
2011
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Parkin mono-ubiquitinates Bcl-2 and regulates autophagy.
20889974
2010
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.
12730996
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.
11590439
2001
×
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
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.
20404107
2010
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.
9731209
1998
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
12397156
2002
×
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
UNIPROT
Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.
17360614
2007
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
22956510
2012