Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.S167N
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PINK1

NM_032409.3:p.S167N

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.

Franz TM et al.

Neurologia I Neurochirurgia Polska, 2025

Activation mechanism of PINK1.

Gan ZY et al.

Nature, 2022

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Fava VM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Twenty years since the discovery of the parkin gene.

Hattori N et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2017

Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson's disease.

García S et al.

Folia Neuropathologica, 2014

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.

Moura KC et al.

Disease Markers, 2013

Dysfunction of mitochondrial respiratory chain complex I in neurological disorders: genetics and pathogenetic mechanisms.

Petruzzella V et al.

Advances in Experimental Medicine and Biology, 2012

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

PARKIN-coding polymorphisms are not associated with Parkinson's disease in a population from northeastern Mexico.

Martínez HR et al.

Neuroscience Letters, 2010

Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD.

Wu YR et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Nuytemans K et al.

Human Mutation, 2009

Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.

Bardien S et al.

Parkinsonism & Related Disorders, 2009

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

Lesage S et al.

Journal of Medical Genetics, 2008

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Clark LN et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2007

Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts.

Schlitter AM et al.

Acta Neurologica Scandinavica, 2006

Prevalence of parkin gene mutations and variations in idiopathic Parkinson's disease.

Sinha R et al.

Parkinsonism & Related Disorders, 2005

Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms.

Bonifati V et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Molecular pathways to neurodegeneration.

Bossy-Wetzel E et al.

Nature Medicine, 2004

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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."