Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.I111S
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PINK1

NM_032409.3:p.I111S

Associated Papers

Transmembrane Parkinson's disease mutation of PINK1 leads to altered mitochondrial anchoring.

Brassard R et al.

The Journal of Biological Chemistry, 2025

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

39973502 (PubMed )
Supplement: sj-xlsx-2-pkn-10.1177_1877718x241304814.xlsx › Total_PINK1_cases

Tom20 gates PINK1 activity and mediates its tethering of the TOM and TIM23 translocases upon mitochondrial stress.

Eldeeb MA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Mapping of a N-terminal α-helix domain required for human PINK1 stabilization, Serine228 autophosphorylation and activation in cells.

Kakade P et al.

Open Biology, 2022

PINK1/PARKIN signalling in neurodegeneration and neuroinflammation.

Quinn PMJ et al.

Acta Neuropathologica Communications, 2020

Mechanisms of PINK1, ubiquitin and Parkin interactions in mitochondrial quality control and beyond.

Bayne AN et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Intramembrane protease PARL defines a negative regulator of PINK1- and PARK2/Parkin-dependent mitophagy.

Meissner C et al.

Autophagy, 2015

Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).

Sim CH et al.

Human Mutation, 2012

The mitochondrial intramembrane protease PARL cleaves human Pink1 to regulate Pink1 trafficking.

Meissner C et al.

Journal of Neurochemistry, 2011

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

Cardona F et al.

Human Mutation, 2011

Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.

Ferraris A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

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

Marongiu R et al.

Human Mutation, 2008

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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."