Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.W437*
Back to variants list

PINK1

NM_032409.3:p.W437*

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Type-Specific Single-Neuron Analysis Reveals Mitochondrial DNA Maintenance Failure Affecting Atrophying Pontine Neurons Differentially in Lewy Body Dementia Syndromes.

Stephenson EJ et al.

Aging Cell, 2025

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

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

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.

Gunasekaran A et al.

Journal of Movement Disorders, 2024

39294919 (PubMed )
Supplement: jmd-24157-Supplementary-Table-1.pdf

A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease.

Sharma K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Exploring the interplay between metabolomics and genetics in Parkinson's disease: Insights from ongoing research and future avenues.

Santos-Rebouças CB et al.

Mechanisms of Ageing and Development, 2023

Is there a special relationship between complex I activity and nigral neuronal loss in Parkinson's disease? A critical reappraisal.

Subrahmanian N et al.

Brain Research, 2021

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A et al.

Molecular Neurodegeneration, 2021

34148545 (PubMed )
Supplement: 13024_2021_455_MOESM1_ESM.pdf

Nonsense suppression therapies in human genetic diseases.

Martins-Dias P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

PINK1: A Bridge between Mitochondria and Parkinson's Disease.

Gonçalves FB et al.

Life (basel, Switzerland), 2021

Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors.

Bus C et al.

Iscience, 2020

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Smolders S et al.

Acta Neuropathologica Communications, 2020

Dynamin-related protein 1: A critical protein in the pathogenesis of neural system dysfunctions and neurodegenerative diseases.

Qi Z et al.

Journal of Cellular Physiology, 2019

Pink1 Regulates Tyrosine Hydroxylase Expression and Dopamine Synthesis.

Lu L et al.

Journal of Alzheimer's Disease : Jad, 2018

Rescue of Pink1 Deficiency by Stress-Dependent Activation of Autophagy.

Zhang Y et al.

Cell Chemical Biology, 2017

PINK1 and Parkin: emerging themes in mitochondrial homeostasis.

McWilliams TG et al.

Current Opinion in Cell Biology, 2017

Harnessing human ADAR2 for RNA repair - Recoding a PINK1 mutation rescues mitophagy.

Wettengel J et al.

Nucleic Acids Research, 2017

Emerging (and converging) pathways in Parkinson's disease: keeping mitochondrial wellness.

Cieri D et al.

Biochemical and Biophysical Research Communications, 2017

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.

Puschmann A et al.

Brain : a Journal of Neurology, 2017

PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?

Truban D et al.

Journal of Parkinson's Disease, 2017

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Hernandez DG et al.

Journal of Neurochemistry, 2016

Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism.

De Rosa A et al.

Parkinsonism & Related Disorders, 2016

Ubiquitin phosphorylation in Parkinson's disease: Implications for pathogenesis and treatment.

Chin LS et al.

Translational Neurodegeneration, 2016

Differential submitochondrial localization of PINK1 as a molecular switch for mediating distinct mitochondrial signaling pathways.

Fallaize D et al.

Cellular Signalling, 2015

Parkinson's disease-associated PINK1 G309D mutation increases abnormal phosphorylation of Tau.

Ye M et al.

Iubmb Life, 2015

Mitochondrial homeostasis molecules: regulation by a trio of recessive Parkinson's disease genes.

Han JY et al.

Experimental Neurobiology, 2014

Detailed analysis of mitochondrial respiratory chain defects caused by loss of PINK1.

Amo T et al.

Neuroscience Letters, 2014

Iron in neurodegenerative disorders of protein misfolding: a case of prion disorders and Parkinson's disease.

Singh N et al.

Antioxidants & Redox Signaling, 2014

PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.

Morais VA et al.

Science (new York, N.y.), 2014

Mutant PINK1 upregulates tyrosine hydroxylase and dopamine levels, leading to vulnerability of dopaminergic neurons.

Zhou ZD et al.

Free Radical Biology & Medicine, 2014

The Parkinson's disease-associated gene PINK1 protects neurons from ischemic damage by decreasing mitochondrial translocation of the fission promoter Drp1.

Zhao Y et al.

Journal of Neurochemistry, 2013

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

Quadri M et al.

Human Mutation, 2013

SARM1 and TRAF6 bind to and stabilize PINK1 on depolarized mitochondria.

Murata H et al.

Molecular Biology of the Cell, 2013

Advances in the genetics of Parkinson disease.

Trinh J et al.

Nature Reviews. Neurology, 2013

PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics.

Rango M et al.

Mitochondrion, 2013

Parkinson's disease: from genetics to treatments.

Fan HC et al.

Cell Transplantation, 2013

Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.

Scornaienchi V et al.

Parkinsonism & Related Disorders, 2012

Mitochondrial dynamics and Parkinson's disease: focus on parkin.

Lim KL et al.

Antioxidants & Redox Signaling, 2012

Mitochondrial Oxidative Stress due to Complex I Dysfunction Promotes Fibroblast Activation and Melanoma Cell Invasiveness.

Taddei ML et al.

Journal of Signal Transduction, 2012

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

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

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.

Crosiers D et al.

Journal of Chemical Neuroanatomy, 2011

What genetics tells us about the causes and mechanisms of Parkinson's disease.

Corti O et al.

Physiological Reviews, 2011

1–50 of 98 papers
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."