PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
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 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
|
9560156 |
1998 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
|
9560156 |
1998 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism.
|
15090472 |
2004 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
|
12112109 |
2002 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive juvenile parkinsonism (AR-JP) is caused by mutations in the parkin gene.
|
12846978 |
2003 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
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 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygous deletions and large heterozygous deletions have been observed in PARK2 in ARJP patients.
|
12874785 |
2003 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
|
19229105 |
2009 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
|
10939576 |
2000 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
|
21996382 |
2012 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia.
|
19491146 |
2009 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families.
|
12114481 |
2002 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
|
12629236 |
2003 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Since the discovery of the Parkin gene in the late 1990s, researchers in many countries have begun extensive research on this gene and found that in addition to AR-JP, the Parkin gene is associated with many diseases, including type 2 diabetes, leprosy, Alzheimer's, autism, and cancer.
|
31753025 |
2019 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
|
25939424 |
2015 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutational dysfunction of PARKIN gene, which encodes a double RING finger protein and has ubiquitin ligase E3 activity, is the major cause of autosomal recessive juvenile Parkinsonism.
|
16339143 |
2006 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The PARK2 gene, previously identified as a mutated target in patients with autosomal recessive juvenile parkinsonism (ARJP), has recently been found to be a candidate tumor suppressor gene in ovarian, breast, lung and hepatocellular carcinoma that maps to the third common fragile site (CFS) FRA6E.
|
16287063 |
2006 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified a mutant PARKIN protein in fibroblast cultures from a pair of siblings with ARJP who were homozygous for the exon 4-deleted Parkin gene.
|
19945426 |
2010 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease.
|
11431533 |
2001 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While mutations in the Park-2 gene are the most frequent cause of autosomal-recessive juvenile parkinsonism (AR-JP), they are also present in several forms of tauopathies.
|
18346797 |
2008 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Complex relationship between Parkin mutations and Parkinson disease.
|
12116199 |
2002 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The phosphoUb binding site on PARKIN comprises a conserved phosphate pocket and harbours residues mutated in patients with AR-JP.
|
26161729 |
2015 |