Variant: rs150562946 

    present in Gene: PRKN
    present in Chromosome: 6
    Position on Chromosome: 161785877
    Alleles of this Variant: G/A

rs150562946 in PRKN gene and PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE PMID 11590439 2001 Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.

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

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

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

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

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

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

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

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

PMID 12362318 2002 [A new point mutation on exon 2 of parkin gene in 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 10939576 2000 Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.

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

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

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

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

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

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

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

rs150562946 in PRKN gene and PARKINSON DISEASE, LATE-ONSET PMID 12730996 2003 Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

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

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

PMID 29311685 2018 Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology.