|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
|
25815004 |
2015 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.
|
25907632 |
2015 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
|
26188007 |
2015 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.
|
24831986 |
2014 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.
|
23279440 |
2013 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.
|
20889486 |
2011 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.
|
20404107 |
2010 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Parkin mono-ubiquitinates Bcl-2 and regulates autophagy.
|
20889974 |
2010 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
|
19801972 |
2009 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
|
19229105 |
2009 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.
|
17766365 |
2008 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.
|
17360614 |
2007 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
|
15584030 |
2005 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
|
15970950 |
2005 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
|
16049031 |
2005 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Distribution, type, and origin of Parkin mutations: review and case studies.
|
15390068 |
2004 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
How much phenotypic variation can be attributed to parkin genotype?
|
12891670 |
2003 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.
|
12925569 |
2003 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
CausalMutation
|
CLINVAR |
RING finger 1 mutations in Parkin produce altered localization of the protein.
|
14519684 |
2003 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
|
12629236 |
2003 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular findings in familial Parkinson disease in Spain.
|
12056932 |
2002 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
|
11971093 |
2002 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
|
12397156 |
2002 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[A new point mutation on exon 2 of parkin gene in Parkinson's disease].
|
12362318 |
2002 |
|
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.
|
11163284 |
2001 |