Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Predictive biomarkers for valproic acid-induced hepatotoxicity in Chinese patients with epilepsy: the role of metabolites and genetic polymorphisms.
Wen D et al.
Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association, 2025
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Small molecules restore mutant mitochondrial DNA polymerase activity.
Valenzuela S et al.
Nature, 2025
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Corrà S et al.
Nature Communications, 2025
In vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.
Smith LA et al.
Seizure, 2025
Protein Nitration in Patients with Mitochondrial Diseases.
Livramento JB et al.
Antioxidants (basel, Switzerland), 2025
A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.
Kalampokini S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
'The phenotypic conundrum of Trp748Ser variant in POLG gene: a report of two patients'.
Rathore A et al.
Acta Neurologica Belgica, 2024
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Borsche M et al.
Cerebellum (london, England), 2024
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y et al.
Nature, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Olkhova EA et al.
Communications Biology, 2023
DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
Harju T et al.
The Pharmacogenomics Journal, 2023
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
In Vivo Investigation of Glucose Metabolism in Idiopathic and PRKN-Related Parkinson's Disease.
Borsche M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Clinical and molecular spectrum associated with Polymerase-γ related disorders.
Jha R et al.
Journal of Child Neurology, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Deepha S et al.
Journal of Molecular Neuroscience : Mn, 2021
Natural History of Polymerase Gamma-Related Ataxia.
Bender F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Failure to Guard: Mitochondrial Protein Quality Control in Cancer.
Friedlander JE et al.
International Journal of Molecular Sciences, 2021
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Lopes-Marques M et al.
Human Mutation, 2021
A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?
Idiculla PS et al.
Journal of Clinical and Translational Research, 2021
The impact of mitochondria-related POLG and TFAM variants on breast cancer pathomorphological characteristics and patient outcomes.
Golubickaite I et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2021
POLG Gene Variants in Cervical Cancer Patients and Their Associations with Clinical and Pathomorphological Tumor Characteristics.
Golubickaite I et al.
Journal of Clinical Medicine, 2021
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2020
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
Blázquez-Bermejo C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.
Hsieh PC et al.
Brain and Behavior, 2019
Late-onset presentation of POLG1-associated mitochondrial disease.
Meira B et al.
Bmj Case Reports, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Mitochondria in cancer: in the aspects of tumorigenesis and targeted therapy.
Badrinath N et al.
Carcinogenesis, 2018
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
Buzkova J et al.
Embo Molecular Medicine, 2018
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Hynynen J et al.
Epilepsia, 2018
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.
Schreglmann SR et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
Inherited mitochondrial genomic instability and chemical exposures.
Chan SSL
Toxicology, 2017
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Hikmat O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O et al.
Journal of Inherited Metabolic Disease, 2017