DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations

2008/10/30 by Sherine S.L. Chan, William C. Copeland · 26 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #DNA Repair Mechanisms

paper · doi:10.1016/j.bbabio.2008.10.007

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• Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis. [europepmc]
• The mitochondrial DNA polymerase in health and disease. [europepmc]
• ALS spinal neurons show varied and reduced mtDNA gene copy numbers and increased mtDNA gene deletions. [europepmc]
• Genetic insights into OXPHOS defect and its role in cancer. [europepmc]
• DNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repair. [europepmc]
• Biochemical analysis of human POLG2 variants associated with mitochondrial disease. [europepmc]
• Defects in mitochondrial DNA replication and human disease. [europepmc]
• Alkyladenine DNA glycosylase (AAG) localizes to mitochondria and interacts with mitochondrial single-stranded binding protein (mtSSB). [europepmc]
• Alpers-Huttenlocher syndrome. [europepmc]
• Clinical and molecular features of POLG-related mitochondrial disease. [europepmc]
• Mitochondrial genome maintenance in health and disease. [europepmc]
• Human mitochondrial DNA replication machinery and disease. [europepmc]
• Adjusting MtDNA Quantification in Whole Blood for Peripheral Blood Platelet and Leukocyte Counts. [europepmc]
• DNA damage related crosstalk between the nucleus and mitochondria. [europepmc]
• Understanding the Epilepsy in POLG Related Disease. [europepmc]
• DNA polymerase β: A missing link of the base excision repair machinery in mammalian mitochondria. [europepmc]
• A Genome-wide Screen Reveals that Reducing Mitochondrial DNA Polymerase Can Promote Elimination of Deleterious Mitochondrial Mutations. [europepmc]
• Mitochondrial DNA Damage: Prevalence, Biological Consequence, and Emerging Pathways. [europepmc]
• Mitochondria and Parkinson's Disease: Clinical, Molecular, and Translational Aspects. [europepmc]
• Self-assembly of multi-component mitochondrial nucleoids via phase separation. [europepmc]
• Role of Oxidative DNA Damage and Repair in Atrial Fibrillation and Ischemic Heart Disease. [europepmc]
• Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson's disease. [europepmc]
• Mitochondrial DNA Instability in Mammalian Cells. [europepmc]
• Chemotherapy Resistance: Role of Mitochondrial and Autophagic Components. [europepmc]
• Intrinsic TGF-β signaling attenuates proximal tubule mitochondrial injury and inflammation in chronic kidney disease. [europepmc]