Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 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
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Corrà S et al.
Nature Communications, 2025
Activating AMPK improves pathological phenotypes due to mtDNA depletion.
Carvalho G et al.
The Febs Journal, 2025
The POLγ Y951N patient mutation disrupts the switch between DNA synthesis and proofreading, triggering mitochondrial DNA instability.
Forslund JME et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Protein Nitration in Patients with Mitochondrial Diseases.
Livramento JB et al.
Antioxidants (basel, Switzerland), 2025
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
Mitochondrial DNA depletion syndrome and its cardiac complication.
Bao S et al.
Frontiers in Cardiovascular Medicine, 2025
Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
Lopriore P et al.
Movement Disorders Clinical Practice, 2024
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.
Kristensen E et al.
Annals of Clinical and Translational Neurology, 2024
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Vincent AE et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Our current understanding of the biological impact of endometrial cancer mtDNA genome mutations and their potential use as a biomarker.
Khadka P et al.
Frontiers in Oncology, 2024
Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor.
Rothwell S et al.
Frontiers in Physiology, 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 case of mitochondrial myopathy and chronic progressive external ophthalmoplegia.
Liu H et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2023
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Erdinc D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations.
Kristiansen CK et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2023
Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review.
Primiano G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
Rahman MM et al.
The Journal of Biological Chemistry, 2022
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Hou Y et al.
Molecular Genetics & Genomic Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn MF et al.
Neurological Research and Practice, 2022
Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?
Gaweda-Walerych K et al.
Genes, 2021
Natural History of Polymerase Gamma-Related Ataxia.
Bender F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
MITOL-dependent ubiquitylation negatively regulates the entry of PolγA into mitochondria.
Hussain M et al.
Plos Biology, 2021
Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis.
Spracklen TF et al.
Circulation. Genomic and Precision Medicine, 2021
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
Gervasoni J et al.
Genes, 2020
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2020
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Lujan SA et al.
Genome Biology, 2020
Macular impairment in mitochondrial diseases: a potential biomarker of disease severity.
Primiano G et al.
Scientific Reports, 2020
Infectious stress triggers a POLG-related mitochondrial disease.
Gaudó P et al.
Neurogenetics, 2020
Mitochondrial Genome (mtDNA) Mutations that Generate Reactive Oxygen Species.
Hahn A et al.
Antioxidants (basel, Switzerland), 2019
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Lehmann D et al.
Nucleic Acids Research, 2019
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
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
Masingue M et al.
Mitochondrion, 2019
The Cellular Mitochondrial Genome Landscape in Disease.
Hahn A et al.
Trends in Cell Biology, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
A rare case of mitochondriopathy with autosomal dominant progressive external ophthalmoplegia diagnosed through skeletal muscle biopsy.
Bastian AE et al.
Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 2019