rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.
20889486
2011
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Parkin mono-ubiquitinates Bcl-2 and regulates autophagy.
20889974
2010
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.
20404107
2010
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
19229105
2009
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
19801972
2009
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.
17360614
2007
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
15584030
2005
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.
12925569
2003
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
12629236
2003
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
[A new point mutation on exon 2 of parkin gene in Parkinson's disease].
12362318
2002
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Molecular findings in familial Parkinson disease in Spain.
12056932
2002
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
12397156
2002
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
11971093
2002
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
11487568
2001
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.
11590439
2001
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.
11163284
2001
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
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
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Association between early-onset Parkinson's disease and mutations in the parkin gene.
10824074
2000
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
10939576
2000
rs778125254
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
0.700
GeneticVariation
UNIPROT
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
9560156
1998