Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.N451S
Back to variants list

PINK1

NM_032409.3:p.N451S

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

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

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."