Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.V15M
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PRKN

NM_004562.3:p.V15M

Associated Papers

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › PARK2

Mitochondrial and autophagic alterations in skin fibroblasts from Parkinson disease patients with Parkin mutations.

González-Casacuberta I et al.

Aging, 2019

Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations.

González-Casacuberta I et al.

Neurobiology of Aging, 2018

Dual Function of Phosphoubiquitin in E3 Activation of Parkin.

Walinda E et al.

The Journal of Biological Chemistry, 2016

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C et al.

Current Genomics, 2013

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

PINK1-mediated phosphorylation of the Parkin ubiquitin-like domain primes mitochondrial translocation of Parkin and regulates mitophagy.

Shiba-Fukushima K et al.

Scientific Reports, 2012

23256036 (PubMed )
Supplement: srep01002-s1.pdf

Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain.

Safadi SS et al.

Biochemistry, 2011

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

Sahashi K et al.

Nucleic Acids Research, 2007

17726045 (PubMed )
Supplement: nar_gkm647_1.pdf

Parkin-associated Parkinson's disease.

von Coelln R et al.

Cell and Tissue Research, 2004

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

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

Muñoz E et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."