| An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol gamma. | An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol γ.
Park J, Herrmann GK, Roy A, Shumate CK, Cisneros GA, Yin YW., Free PMC Article | 06/7/2024 |
| Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation. | Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.
Saha D, Kothari S, Kulkarni SD, Thambiraja M, Yennamalli RM, Das DK. | 05/13/2024 |
| Ancestral allele of DNA polymerase gamma modifies antiviral tolerance. | Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A., Free PMC Article | 05/2/2024 |
| POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype. | POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype.
Finsterer J. | 02/5/2024 |
| DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship? | DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
Harju T, Hurme-Niiranen A, Suo-Palosaari M, Nygaard Nielsen S, Hinttala R, Schmiegelow K, Uusimaa J, Harila A, Niinimäki R., Free PMC Article | 09/21/2023 |
| POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia. | POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia.
Hong Y, Kristiansen CK, Chen A, Nido GS, Høyland LE, Ziegler M, Sullivan GJ, Bindoff LA, Liang KX. | 05/22/2023 |
| Mechanism of strand displacement DNA synthesis by the coordinated activities of human mitochondrial DNA polymerase and SSB. | Mechanism of strand displacement DNA synthesis by the coordinated activities of human mitochondrial DNA polymerase and SSB.
Plaza-G A I, Lemishko KM, Crespo R, Truong TQ, Kaguni LS, Cao-García FJ, Ciesielski GL, Ibarra B., Free PMC Article | 03/9/2023 |
| [Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations]. | [Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].
García-Cabo C, Carvajal-García P, Fernández-Vega I, Peña-Suárez J, Mateos-Marcos V, Suárez-Santos P, Álvarez-Martínez V, Morís-de la Tassa G., Free PMC Article | 02/4/2023 |
| POLG mutation setting off 'FIRES'. | POLG mutation setting off 'FIRES'.
Menon D, Holla VV, Pal PK. | 01/21/2023 |
| Heterozygous p.Y955C mutation in DNA polymerase gamma leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication. | Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
Rahman MM, Young CKJ, Goffart S, Pohjoismäki JLO, Young MJ., Free PMC Article | 09/17/2022 |
| POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition. | POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition.
Chen A, Kristiansen CK, Høyland LE, Ziegler M, Wang J, Sullivan GJ, Li X, Bindoff LA, Liang KX., Free PMC Article | 05/21/2022 |
| Mitochondrial biogenesis gene POLG correlates with outcome in pediatric acute myeloid leukemia. | Mitochondrial biogenesis gene POLG correlates with outcome in pediatric acute myeloid leukemia.
Chaudhary S, Ganguly S, Singh A, Palanichamy JK, Bakhshi R, Chopra A, Bakhshi S. | 04/30/2022 |
| Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis. | Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis.
Spracklen TF, Kasher PR, Kraus S, Botha TL, Page DJ, Kamuli S, Booi Z, Chin A, Laing N, Keavney BD, Ntusi NAB, Shaboodien G. | 03/12/2022 |
| Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase gamma Mutations in a Cohort from India. | Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Deepha S, Govindaraj P, Sankaran BP, Chiplunkar S, Kashinkunti C, Nunia V, Nagappa M, Sinha S, Khanna T, Thangaraj K, Taly AB, Gayathri N. | 02/26/2022 |
| Functional analysis of a novel POLgammaA mutation associated with a severe perinatal mitochondrial encephalomyopathy. | Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.
Darin N, Siibak T, Peter B, Hedberg-Oldfors C, Kollberg G, Kalbin V, Moslemi AR, Macao B, Oldfors A, Falkenberg M. | 01/15/2022 |
| Urine Cell-Free Mitochondrial DNA as a Marker of Weight Loss and Body Composition in Older Adults With HIV. | Urine Cell-Free Mitochondrial DNA as a Marker of Weight Loss and Body Composition in Older Adults With HIV.
Johnston CD, Siegler EL, Rice MC, Derry HM, Hootman KC, Zhu YS, Burchett CO, Gupta SK, Choi ME, Glesby MJ., Free PMC Article | 01/1/2022 |
| Camptocormia as the main manifestation of a mutation in the POLG gene. | Camptocormia as the main manifestation of a mutation in the POLG gene.
Sancho Saldaña A, Lázaro Romero A, Capablo Liesa JL, Alarcia Alejos R. | 11/27/2021 |
| Remdesivir triphosphate blocks DNA synthesis and increases exonucleolysis by the replicative mitochondrial DNA polymerase, Pol gamma. | Remdesivir triphosphate blocks DNA synthesis and increases exonucleolysis by the replicative mitochondrial DNA polymerase, Pol γ.
Ciesielska EJ, Kim S, Bisimwa HM, Grier C, Rahman MM, Young CKJ, Young MJ, Oliveira MT, Ciesielski GL., Free PMC Article | 11/27/2021 |
| The impact of mitochondria-related POLG and TFAM variants on breast cancer pathomorphological characteristics and patient outcomes. | The impact of mitochondria-related POLG and TFAM variants on breast cancer pathomorphological characteristics and patient outcomes.
Golubickaite I, Ugenskiene R, Korobeinikova E, Gudaitiene J, Vaitiekus D, Poskiene L, Juozaityte E. | 11/27/2021 |
| POLG Mutations Are Probably Rare in the Han Chinese Population. | POLG Mutations Are Probably Rare in the Han Chinese Population.
Yang KF, Meng LY, Zhang YF, Yang YC, Cheng HY, Jiang ZH, Zhang H, Chen YC. | 10/2/2021 |
| Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO. | Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.
Lin Y, Du J, Wang W, Ren H, Zhao D, Liu F, Lin P, Ji K, Zhao Y, Yan C. | 09/25/2021 |
| N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation. | N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation.
Liang KX, Vatne GH, Kristiansen CK, Ievglevskyi O, Kondratskaya E, Glover JC, Chen A, Sullivan GJ, Bindoff LA. | 09/18/2021 |
| Poly(ADP-ribose) polymerase 1 regulates mitochondrial DNA repair in an NAD-dependent manner. | Poly(ADP-ribose) polymerase 1 regulates mitochondrial DNA repair in an NAD-dependent manner.
Herrmann GK, Russell WK, Garg NJ, Yin YW., Free PMC Article | 08/28/2021 |
| Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. | Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. | 08/28/2021 |
| Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro. | Mitochondrial genetic variation is enriched in G-quadruplex regions that stall DNA synthesis in vitro.
Butler TJ, Estep KN, Sommers JA, Maul RW, Moore AZ, Bandinelli S, Cucca F, Tuke MA, Wood AR, Bharti SK, Bogenhagen DF, Yakubovskaya E, Garcia-Diaz M, Guilliam TA, Byrd AK, Raney KD, Doherty AJ, Ferrucci L, Schlessinger D, Ding J, Brosh RM., Free PMC Article | 08/7/2021 |