Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q311*
Back to variants list

PRKN

NM_004562.3:p.Q311*

Associated Papers

Small extracellular vesicles as emerging biomarkers and therapeutic targets in neurodegenerative diseases.

Zafarjonovna AZ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.

Paksoy B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

Atasu B et al.

Journal of Medical Genetics, 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

The regulatory mechanism and therapeutic potential of transcription factor EB in neurodegenerative diseases.

Jiao F et al.

Cns Neuroscience & Therapeutics, 2023

Cell Biology of Parkin: Clues to the Development of New Therapeutics for Parkinson's Disease.

Patel J et al.

Cns Drugs, 2022

Targeting adaptive cellular responses to mitochondrial bioenergetic deficiencies in human disease.

Bennett CF et al.

The Febs Journal, 2022

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.

Kim J et al.

Genes, 2022

Mitochondrial quality control in health and in Parkinson's disease.

Eldeeb MA et al.

Physiological Reviews, 2022

Crosstalk of organelles in Parkinson's disease - MiT family transcription factors as central players in signaling pathways connecting mitochondria and lysosomes.

Lang M et al.

Molecular Neurodegeneration, 2022

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

Early Dysfunction of Substantia Nigra Dopamine Neurons in the ParkinQ311X Mouse.

Regoni M et al.

Biomedicines, 2021

Update on the association between alpha-synuclein and tau with mitochondrial dysfunction: Implications for Parkinson's disease.

Feng ST et al.

The European Journal of Neuroscience, 2021

The lysosomal membrane protein Sidt2 is a vital regulator of mitochondrial quality control in skeletal muscle.

Wang L et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.

Lubbe SJ et al.

Human Molecular Genetics, 2021

33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx

Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.

Kamienieva I et al.

Translational Neurodegeneration, 2021

Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.

Kee TR et al.

Frontiers in Aging Neuroscience, 2021

Folliculin: A Regulator of Transcription Through AMPK and mTOR Signaling Pathways.

Ramirez Reyes JMJ et al.

Frontiers in Cell and Developmental Biology, 2021

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

Defects in Mitochondrial Biogenesis Drive Mitochondrial Alterations in PARKIN-Deficient Human Dopamine Neurons.

Kumar M et al.

Stem Cell Reports, 2020

32795422 (PubMed )
Supplement: mmc2.pdf

Dysregulation of TFEB contributes to manganese-induced autophagic failure and mitochondrial dysfunction in astrocytes.

Zhang Z et al.

Autophagy, 2020

Emerging role of transcription factor EB in mitochondrial quality control.

Wang S et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 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

Back and to the Future: From Neurotoxin-Induced to Human Parkinson's Disease Models.

Airavaara M et al.

Current Protocols in Neuroscience, 2020

Parkin interacting substrate zinc finger protein 746 is a pathological mediator in Parkinson's disease.

Brahmachari S et al.

Brain : a Journal of Neurology, 2019

A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.

Lin CH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

TFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities.

Cortes CJ et al.

Neurobiology of Disease, 2019

Genetically engineered animal models of Parkinson's disease: From worm to rodent.

Breger LS et al.

The European Journal of Neuroscience, 2019

Parkin-dependent regulation of the MCU complex component MICU1.

Matteucci A et al.

Scientific Reports, 2018

The M458L missense mutation disrupts the catalytic properties of Parkin.

Do YJ et al.

Febs Letters, 2018

Activation mechanisms of the E3 ubiquitin ligase parkin.

Panicker N et al.

The Biochemical Journal, 2017

PARK2 Depletion Connects Energy and Oxidative Stress to PI3K/Akt Activation via PTEN S-Nitrosylation.

Gupta A et al.

Molecular Cell, 2017

28306514 (PubMed )
Supplement: mmc4.pdf

Mouse Genetic Models of Human Brain Disorders.

Leung C et al.

Frontiers in Genetics, 2016

Mitochondrial Quality Control via the PGC1α-TFEB Signaling Pathway Is Compromised by Parkin Q311X Mutation But Independently Restored by Rapamycin.

Siddiqui A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's disease.

Pickrell AM et al.

Neuron, 2015

Parkin regulates kainate receptors by interacting with the GluK2 subunit.

Maraschi A et al.

Nature Communications, 2014

The mitochondrial deubiquitinase USP30 opposes parkin-mediated mitophagy.

Bingol B et al.

Nature, 2014

PINK1-mediated phosphorylation of Parkin boosts Parkin activity in Drosophila.

Shiba-Fukushima K et al.

Plos Genetics, 2014

Long-term overexpression of human wild-type and T240R mutant Parkin in rat substantia nigra induces progressive dopaminergic neurodegeneration.

Van Rompuy AS et al.

Journal of Neuropathology and Experimental Neurology, 2014

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

Oczkowska A et al.

Current Genomics, 2013

Mitochondrial diseases of the brain.

Chaturvedi RK et al.

Free Radical Biology & Medicine, 2013

Cranial and related sensorimotor impairments in rodent models of Parkinson's disease.

Fleming SM et al.

Behavioural Brain Research, 2012

Genetically engineered mouse models of Parkinson's disease.

Crabtree DM et al.

Brain Research Bulletin, 2012

Biology of mitochondria in neurodegenerative diseases.

Martin LJ

Progress in Molecular Biology and Translational Science, 2012

Parkinson's disease mouse models in translational research.

Antony PM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011

Synaptic dysfunction in genetic models of Parkinson's disease: a role for autophagy?

Plowey ED et al.

Neurobiology of Disease, 2011

New animal models of Parkinson's disease.

Dehay B et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease.

Shin JH et al.

Cell, 2011

1–50 of 102 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."