Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.I368N
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PINK1

NM_032409.3:p.I368N

Associated Papers

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

41277110 (PubMed )
Supplement: KAUP_A_2581217_SM7038.pdf

Development and validation of a sensitive sandwich ELISA against human PINK1.

Baninameh Z et al.

Autophagy, 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

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

Basal activity of PINK1 and PRKN in cell models and rodent brain.

Watzlawik JO et al.

Autophagy, 2024

Defects in Mitochondrial Biogenesis Drive Mitochondrial Alterations in PINK1-deficient Human Dopamine Neurons.

Wang H et al.

Biorxiv : the Preprint Server for Biology, 2023

Unraveling the Complex Interplay between Alpha-Synuclein and Epigenetic Modification.

Sugeno N et al.

International Journal of Molecular Sciences, 2023

Increased cysteine metabolism in PINK1 models of Parkinson's disease.

Travaglio M et al.

Disease Models & Mechanisms, 2023

Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Broadway BJ et al.

Cells, 2022

Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson's disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004).

Novak G et al.

Stem Cell Research, 2022

Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.

Dang X et al.

Cells, 2022

Single-cell transcriptomics of human iPSC differentiation dynamics reveal a core molecular network of Parkinson's disease.

Novak G et al.

Communications Biology, 2022

Parkinson's Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-β-Cyclodextrin Treatment.

Jarazo J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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

Ma KY et al.

Npj Parkinson's Disease, 2021

Genetics of Parkinson's disease in the Polish population.

Milanowski ŁM et al.

Neurologia I Neurochirurgia Polska, 2021

Early-Onset Parkinson Disease Screening in Patients From Nigeria.

Milanowski LM et al.

Frontiers in Neurology, 2020

Generation of an induced pluripotent stem cell line (GIBHi003-A) from a Parkinson's disease patient with mutant PINK1 (p. I368N).

Abdul MM et al.

Stem Cell Research, 2019

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

The ubiquitin E3 ligase CHIP promotes proteasomal degradation of the serine/threonine protein kinase PINK1 during staurosporine-induced cell death.

Yoo L et al.

The Journal of Biological Chemistry, 2018

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity.

Ando M et al.

Molecular Neurodegeneration, 2017

Functional Impairment in Miro Degradation and Mitophagy Is a Shared Feature in Familial and Sporadic Parkinson's Disease.

Hsieh CH et al.

Cell Stem Cell, 2016

PINK1 disables the anti-fission machinery to segregate damaged mitochondria for mitophagy.

Pryde KR et al.

The Journal of Cell Biology, 2016

F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy.

Zhou ZD et al.

Human Molecular Genetics, 2015

Rare causes of dystonia parkinsonism.

Schneider SA et al.

Current Neurology and Neuroscience Reports, 2010

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