Variant: rs137853054

present in Gene: PRKN present in Chromosome: 6 Position on Chromosome: 161973317 Alleles of this Variant: G/A;C;T

rs137853054 in PRKN gene and PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 18211709 2008 Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

PMID 25877876 2015 Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.

PMID 16227559 2005 Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.

PMID 19205068 2009 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.

PMID 18519021 2008 Parkin analysis in early onset Parkinson's disease.

PMID 20889974 2010 Parkin mono-ubiquitinates Bcl-2 and regulates autophagy.

PMID 12764050 2003 Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

PMID 12629236 2003 Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.

PMID 12925569 2003 The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.

PMID 18973255 2009 Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.

PMID 23275044 2013 Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.

PMID 16476817 2006 Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

PMID 20889486 2011 Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 20404107 2010 PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.

PMID 19801972 2009 Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.

PMID 24167364 2013 Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.

PMID 26274610 2015 Parkinson's Disease in Saudi Patients: A Genetic Study.

PMID 12397156 2002 Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.

PMID 17360614 2007 Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.

PMID 12056932 2002 Molecular findings in familial Parkinson disease in Spain.

PMID 11179010 2001 Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

PMID 11487568 2001 The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

PMID 11163284 2001 A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

PMID 11971093 2002 Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.

PMID 15584030 2005 Novel parkin mutations detected in patients with early-onset Parkinson's disease.

PMID 12362318 2002 [A new point mutation on exon 2 of parkin gene in Parkinson's disease].

PMID 10939576 2000 Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.

PMID 11590439 2001 Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.

PMID 10824074 2000 Association between early-onset Parkinson's disease and mutations in the parkin gene.

PMID 9560156 1998 Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.