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Year Number of Results
2016 2
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Page 1
POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC. Rahman S, et al. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. Nat Rev Neurol. 2019. PMID: 30451971 Free PMC article. Review.
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syndromes arising from mtDN …
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in …
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
Brañas Casas R, Zuppardo A, Risato G, Dinarello A, Celeghin R, Fontana C, Grelloni E, Gilea AI, Viscomi C, Rasola A, Dalla Valle L, Lodi T, Baruffini E, Facchinello N, Argenton F, Tiso N. Brañas Casas R, et al. Cell Death Dis. 2024 Apr 20;15(4):281. doi: 10.1038/s41419-024-06622-9. Cell Death Dis. 2024. PMID: 38643274 Free PMC article.
The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of a catalytic subunit (POLG) and a dimeric accessory subunit (POLG2) conferring processivity. Mutations in POLG or POLG2 cause …
The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of …
Mitochondrial DNA maintenance defects.
El-Hattab AW, Craigen WJ, Scaglia F. El-Hattab AW, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1539-1555. doi: 10.1016/j.bbadis.2017.02.017. Epub 2017 Feb 16. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28215579 Free article. Review.
Mitochondrial DNA maintenance defects (MDMDs) are a group of diseases caused by pathogenic variants in the nuclear genes involved in mtDNA maintenance resulting in impaired mtDNA synthesis leading to quantitative (mtDNA depletion) and qualitative (multiple mtDNA del …
Mitochondrial DNA maintenance defects (MDMDs) are a group of diseases caused by pathogenic variants in the nuclear genes involved in mtDNA m …
Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
Liang KX, Chen A, Kianian A, Kristiansen CK, Yangzom T, Furriol J, Høyland LE, Ziegler M, Kråkenes T, Tzoulis C, Fang EF, Sullivan GJ, Bindoff LA. Liang KX, et al. Int J Biol Sci. 2024 May 11;20(8):2860-2880. doi: 10.7150/ijbs.93445. eCollection 2024. Int J Biol Sci. 2024. PMID: 38904024 Free PMC article.
Mitochondrial diseases are associated with neuronal death and mtDNA depletion. Astrocytes respond to injury or stimuli and damage to the central nervous system. ...However, astrocyte activation and its impact on neuronal homeostasis in mitochondrial disease remain t …
Mitochondrial diseases are associated with neuronal death and mtDNA depletion. Astrocytes respond to injury or stimuli and dam …
Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction: A trembling balance.
Manini A, Abati E, Comi GP, Corti S, Ronchi D. Manini A, et al. Ageing Res Rev. 2022 Apr;76:101578. doi: 10.1016/j.arr.2022.101578. Epub 2022 Jan 31. Ageing Res Rev. 2022. PMID: 35114397 Review.
Mutations in several nuclear genes (i.e., POLG, POLG2, TWNK, OPA1, DGUOK, MPV17, TYMP) impair mtDNA maintenance, leading to clinical syndromes characterized by mtDNA depletion and/or deletions in affected tissues. ...
Mutations in several nuclear genes (i.e., POLG, POLG2, TWNK, OPA1, DGUOK, MPV17, TYMP) impair mtDNA maintenance, leading to clinical …
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y. Blázquez-Bermejo C, et al. FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8. FASEB J. 2019. PMID: 30848931
Enhancing mitochondrial deoxyribonucleoside triphosphate (dNTP) synthesis effectively rescues mtDNA depletion in different models of defective mtDNA maintenance due to dNTP insufficiency. ...A., Dominguez-Gonzalez, C., de la Cruz, X., Lombes, A., Garcia-Arumi, E., M …
Enhancing mitochondrial deoxyribonucleoside triphosphate (dNTP) synthesis effectively rescues mtDNA depletion in different mod …
Understanding the Epilepsy in POLG Related Disease.
Hikmat O, Eichele T, Tzoulis C, Bindoff LA. Hikmat O, et al. Int J Mol Sci. 2017 Aug 24;18(9):1845. doi: 10.3390/ijms18091845. Int J Mol Sci. 2017. PMID: 28837072 Free PMC article. Review.
Epilepsy is common in polymerase gamma (POLG) related disease and is associated with high morbidity and mortality. Epileptiform discharges typically affect the occipital regions initially and focal seizures, commonly evolving to bilateral convulsive seizures which are the …
Epilepsy is common in polymerase gamma (POLG) related disease and is associated with high morbidity and mortality. Epileptiform disch …
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y, Rampakakis E, Aubert G, Dassi C, Mannherz W, Berrahmoune S, Srour M, Buhas D, Agarwal S, Myers KA. Dille Y, et al. Mitochondrion. 2026 May;88:102131. doi: 10.1016/j.mito.2026.102131. Epub 2026 Feb 10. Mitochondrion. 2026. PMID: 41679577 Free article.
Mitochondrial DNA (mtDNA) depletion disorders (MDDs) are rare, genetically diverse conditions marked by a significant reduction in mtDNA, primarily affecting energy-demanding tissues such as muscle, liver, and brain, sometimes leading to catastrophic multisystem fai …
Mitochondrial DNA (mtDNA) depletion disorders (MDDs) are rare, genetically diverse conditions marked by a significant reductio …
Deoxyribonucleoside treatment rescues EtBr-induced mtDNA depletion in iPSC-derived neural stem cells with POLG mutations.
Kristiansen CK, Furriol J, Chen A, Sullivan GJ, Bindoff LA, Liang KX. Kristiansen CK, et al. FASEB J. 2023 Sep;37(9):e23139. doi: 10.1096/fj.202300650RR. FASEB J. 2023. PMID: 37584631
In addition, we investigated the effect of deoxyribonucleoside (dNs) supplementation on mtDNA maintenance during EtBr treatment and post-treatment repopulation in the same cells. EtBr-induced mtDNA depletion occurred at a similar rate in both patient and control iNS …
In addition, we investigated the effect of deoxyribonucleoside (dNs) supplementation on mtDNA maintenance during EtBr treatment and post-tre …
Mitochondrial DNA replication and repair defects: Clinical phenotypes and therapeutic interventions.
Roy A, Kandettu A, Ray S, Chakrabarty S. Roy A, et al. Biochim Biophys Acta Bioenerg. 2022 Jun 1;1863(5):148554. doi: 10.1016/j.bbabio.2022.148554. Epub 2022 Mar 24. Biochim Biophys Acta Bioenerg. 2022. PMID: 35341749 Free article. Review.
Mutations in replication and repair genes of mitochondria can result in mtDNA depletion and deletions subsequently leading to mitochondrial genome instability. ...
Mutations in replication and repair genes of mitochondria can result in mtDNA depletion and deletions subsequently leading to …
30 results