Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.G440E
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PINK1

NM_032409.3:p.G440E

Associated Papers

AI-augmented prediction of high-risk PINK1 variants associated with Parkinson's disease: integrating multilayered bioinformatics, MD simulation, and deep learning.

Rehman HU et al.

Methods (san Diego, Calif.), 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 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

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

PINK1 and Parkin: emerging themes in mitochondrial homeostasis.

McWilliams TG et al.

Current Opinion in Cell Biology, 2017

The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Hauser DN et al.

Current Protein & Peptide Science, 2017

Advances in the genetics of Parkinson disease.

Trinh J et al.

Nature Reviews. Neurology, 2013

PINK1 rendered temperature sensitive by disease-associated and engineered mutations.

Narendra DP et al.

Human Molecular Genetics, 2013

Discovery of catalytically active orthologues of the Parkinson's disease kinase PINK1: analysis of substrate specificity and impact of mutations.

Woodroof HI et al.

Open Biology, 2011

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

Cardona F et al.

Human Mutation, 2011

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.

Nishioka K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

PINK1 mutations and parkinsonism.

Ishihara-Paul L et al.

Neurology, 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."