Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P296L
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PINK1

NM_032409.3:p.P296L

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

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

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

Cardona F et al.

Human Mutation, 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

Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.

Zadikoff C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C et al.

European Journal of Human Genetics : Ejhg, 2005

PINK1 mutations are associated with sporadic early-onset parkinsonism.

Valente EM et al.

Annals of Neurology, 2004

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