Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Y431H
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PINK1

NM_032409.3:p.Y431H

Associated Papers

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease.

Tufi R et al.

Nature Cell Biology, 2014

Genetic analysis of mitochondrial protein misfolding in Drosophila melanogaster.

Pimenta de Castro I et al.

Cell Death and Differentiation, 2012

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

Cardona F et al.

Human Mutation, 2011

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

Deas E et al.

Human Molecular Genetics, 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

What have PINK1 and HtrA2 genes told us about the role of mitochondria in Parkinson's disease?

Plun-Favreau H et al.

Annals of the New York Academy of Sciences, 2008

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).

Mills RD et al.

Journal of Neurochemistry, 2008

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R et al.

Human Mutation, 2008

The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.

Plun-Favreau H et al.

Nature Cell Biology, 2007

Pathogenic mutations in Parkinson disease.

Tan EK et al.

Human Mutation, 2007

A heterozygous effect for PINK1 mutations in Parkinson's disease?

Abou-Sleiman PM et al.

Annals of Neurology, 2006

PINK1 protein in normal human brain and Parkinson's disease.

Gandhi S et al.

Brain : a Journal of Neurology, 2006

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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."