Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D384A
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PINK1

NM_032409.3:p.D384A

Associated Papers

PINK1-dependent NFKB signaling contributes to amyloid pathology in Alzheimer disease.

Du F et al.

Autophagy, 2025

A positive feedback loop between SMAD3 and PINK1 in regulation of mitophagy.

Tang M et al.

Cell Discovery, 2025

PINK1 controls RTN3L-mediated ER autophagy by regulating peripheral tubule junctions.

Chidambaram R et al.

The Journal of Cell Biology, 2024

Mechanism of human PINK1 activation at the TOM complex in a reconstituted system.

Raimi OG et al.

Science Advances, 2024

PINK1 and Parkin regulate IP3R-mediated ER calcium release.

Ham SJ et al.

Nature Communications, 2023

37626046 (PubMed )
Supplement: 41467_2023_40929_MOESM1_ESM.pdf

Substitution of PINK1 Gly411 modulates substrate receptivity and turnover.

Fiesel FC et al.

Autophagy, 2023

Activation mechanism of PINK1.

Gan ZY et al.

Nature, 2022

Mapping of a N-terminal α-helix domain required for human PINK1 stabilization, Serine228 autophosphorylation and activation in cells.

Kakade P et al.

Open Biology, 2022

PINK1 drives production of mtDNA-containing extracellular vesicles to promote invasiveness.

Rabas N et al.

The Journal of Cell Biology, 2021

PINK1-dependent phosphorylation of Serine111 within the SF3 motif of Rab GTPases impairs effector interactions and LRRK2-mediated phosphorylation at Threonine72.

Vieweg S et al.

The Biochemical Journal, 2020

Decision between mitophagy and apoptosis by Parkin via VDAC1 ubiquitination.

Ham SJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

The Parkinson's disease gene PINK1 activates Akt via PINK1 kinase-dependent regulation of the phospholipid PI(3,4,5)P3.

Furlong RM et al.

Journal of Cell Science, 2019

PINK1 signalling rescues amyloid pathology and mitochondrial dysfunction in Alzheimer's disease.

Du F et al.

Brain : a Journal of Neurology, 2017

Mitophagy Controls the Activities of Tumor Suppressor p53 to Regulate Hepatic Cancer Stem Cells.

Liu K et al.

Molecular Cell, 2017

Antagonism of proteasome inhibitor-induced heme oxygenase-1 expression by PINK1 mutation.

Sheng XJ et al.

Plos One, 2017

Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.

Im E et al.

Open Biology, 2016

Interaction between RING1 (R1) and the Ubiquitin-like (UBL) Domains Is Critical for the Regulation of Parkin Activity.

Ham SJ et al.

The Journal of Biological Chemistry, 2016

Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1.

Lai YC et al.

The Embo Journal, 2015

PINK1 phosphorylates transglutaminase 2 and blocks its proteasomal degradation.

Min B et al.

Journal of Neuroscience Research, 2015

The Parkinson's gene PINK1 regulates cell cycle progression and promotes cancer-associated phenotypes.

O'Flanagan CH et al.

Oncogene, 2015

Phosphorylation of mitochondrial polyubiquitin by PINK1 promotes Parkin mitochondrial tethering.

Shiba-Fukushima K et al.

Plos Genetics, 2014

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

Zhou ZD et al.

Free Radical Biology & Medicine, 2014

A dimeric PINK1-containing complex on depolarized mitochondria stimulates Parkin recruitment.

Okatsu K et al.

The Journal of Biological Chemistry, 2013

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

Murata H et al.

Molecular Biology of the Cell, 2013

A neo-substrate that amplifies catalytic activity of parkinson's-disease-related kinase PINK1.

Hertz NT et al.

Cell, 2013

Parkin-catalyzed ubiquitin-ester transfer is triggered by PINK1-dependent phosphorylation.

Iguchi M et al.

The Journal of Biological Chemistry, 2013

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

Narendra DP et al.

Human Molecular Genetics, 2013

PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage.

Arena G et al.

Cell Death and Differentiation, 2013

PINK1 and Parkin complementarily protect dopaminergic neurons in vertebrates.

Matsui H et al.

Human Molecular Genetics, 2013

PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria.

Chen Y et al.

Science (new York, N.y.), 2013

Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila.

Song S et al.

The Journal of Biological Chemistry, 2013

PINK1 positively regulates IL-1β-mediated signaling through Tollip and IRAK1 modulation.

Lee HJ et al.

Journal of Neuroinflammation, 2012

PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65.

Kondapalli C et al.

Open Biology, 2012

[Role of mitophagy in hereditary Parkinson's disease].

Matsuda N et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2012

PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria.

Okatsu K et al.

Nature Communications, 2012

PINK1-mediated phosphorylation of the Parkin ubiquitin-like domain primes mitochondrial translocation of Parkin and regulates mitophagy.

Shiba-Fukushima K et al.

Scientific Reports, 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

Genetic mutations and functions of PINK1.

Kawajiri S et al.

Trends in Pharmacological Sciences, 2011

PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.

Matsuda N et al.

The Journal of Cell Biology, 2010

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1.

Geisler S et al.

Nature Cell Biology, 2010

Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF-kappaB signaling.

Sha D et al.

Human Molecular Genetics, 2010

Molecular interaction between parkin and PINK1 in mammalian neuronal cells.

Um JW et al.

Molecular and Cellular Neurosciences, 2009

Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1.

Weihofen A et al.

Human Molecular Genetics, 2008

PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1.

Pridgeon JW et al.

Plos Biology, 2007

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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."