Variant: rs34424986 

    present in Gene: PRKN
    present in Chromosome: 6
    Position on Chromosome: 161785820
    Alleles of this Variant: G/A;T

rs34424986 in PRKN gene and PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PMID 12629236 2003 Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.

PMID 15970950 2005 PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset 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 11163284 2001 A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

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

PMID 12891670 2003 How much phenotypic variation can be attributed to parkin genotype?

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

PMID 25815004 2015 Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

PMID 26188007 2015 Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.

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

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

PMID 16049031 2005 Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

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

PMID 14519684 2003 RING finger 1 mutations in Parkin produce altered localization of the protein.

PMID 15390068 2004 Distribution, type, and origin of Parkin mutations: review and case studies.

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

PMID 17766365 2008 Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

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

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

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

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

PMID 24831986 2014 Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China.

PMID 11558785 2001 Lewy bodies and parkinsonism in families with parkin mutations.

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

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

PMID 25907632 2015 The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.

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

PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 10072423 1999 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.

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

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

rs34424986 in PRKN gene and PARKINSON DISEASE, LATE-ONSET PMID 29311685 2018 Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology.

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

PMID 19966284 2010 PINK1-dependent recruitment of Parkin to mitochondria in mitophagy.

PMID 12730996 2003 Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

rs34424986 in PRKN gene and Young onset Parkinson disease PMID 25815004 2015 Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

PMID 23531835 2013 Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.

PMID 19636047 2009 Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

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

PMID 16049031 2005 Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

PMID 26836416 2016 Exome sequencing in dementia with Lewy bodies.

PMID 22555654 2012 Lewy body pathology and typical Parkinson disease in a patient with a heterozygous (R275W) mutation in the Parkin gene (PARK2).

PMID 10072423 1999 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.

PMID 14519684 2003 RING finger 1 mutations in Parkin produce altered localization of the protein.

PMID 26855076 2016 Neurocognitive & neuropsychiatric phenotypes of PARK2-associated early-onset Parkinson's disease in two siblings.

PMID 27182553 2016 Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

PMID 27294386 2016 Genetic Mutation Analysis of Parkinson's Disease Patients Using Multigene Next-Generation Sequencing Panels.

PMID 25591737 2015 Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.

PMID 25907632 2015 The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) Variants.

PMID 15390068 2004 Distribution, type, and origin of Parkin mutations: review and case studies.

PMID 25939424 2015 Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.

PMID 12891670 2003 How much phenotypic variation can be attributed to parkin genotype?

PMID 19162522 2009 Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.