| POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature. | POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Borsche M, Dulovic-Mahlow M, Baumann H, Tunc S, Lüth T, Schaake S, Özcakir S, Westenberger A, Münchau A, Knappe E, Trinh J, Brüggemann N, Lohmann K., Free PMC Article | 03/20/2024 |
| Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA. | Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
Wojtaszek JL, Hoff KE, Longley MJ, Kaur P, Andres SN, Wang H, Williams RS, Copeland WC., Free PMC Article | 02/5/2024 |
| The accessory subunit of human DNA polymerase gamma is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit. | The accessory subunit of human DNA polymerase γ is required for mitochondrial DNA maintenance and is able to stabilize the catalytic subunit.
Do Y, Matsuda S, Inatomi T, Nakada K, Yasukawa T, Kang D. | 04/3/2021 |
| Consequences of compromised mitochondrial genome integrity. | Consequences of compromised mitochondrial genome integrity.
Gustafson MA, Sullivan ED, Copeland WC., Free PMC Article | 03/28/2021 |
| Compared to control fibroblasts, homozygous R182W p55 primary dermal fibroblasts exhibit a two-fold slower doubling time, reduced mtDNA copy number and reduced levels of POLG and POLG2 transcripts correlating with the reported disease state. Expression of R182W p55 in HEK293 cells impairs oxidative-phosphorylation. Biochemically, R182W p55 displays DNA binding and association with p140 similar to WT p55. | Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC., Free PMC Article | 02/16/2019 |
| This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion. | Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB., Free PMC Article | 02/18/2017 |
| Results show that polymorphisms at POLG2 and POLRMT increased risk of oral cancer and leukoplakia, respectively, probably modulating synthesis and activity of the enzymes. | Association of DNA sequence variation in mitochondrial DNA polymerase with mitochondrial DNA synthesis and risk of oral cancer.
Datta S, Ray A, Roy R, Roy B. | 03/19/2016 |
| Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. | Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians.
He YH, Lu X, Wu H, Cai WW, Yang LQ, Xu LY, Sun HP, Kong QP. | 11/22/2014 |
| The authors describe the molecular characterization of a potential dominant POLG2 mutation (p.R369G) in a patient with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions. | A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.
Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW., Free PMC Article | 07/14/2012 |
| Data show that rs17650301 in POLG2 is a good candidate marker for UBC invasiveness in Japanese males. | A polymorphism of the POLG2 gene is genetically associated with the invasiveness of urinary bladder cancer in Japanese males.
Ratanajaraya C, Nishiyama H, Takahashi M, Kawaguchi T, Saito R, Mikami Y, Suyama M, Lathrop M, Yamada R, Ogawa O, Matsuda F. | 01/28/2012 |
| The biochemical analysis helps explain the pathogenesis of POLG2 mutations in mitochondrial disease. | Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
Young MJ, Longley MJ, Li FY, Kasiviswanathan R, Wong LJ, Copeland WC., Free PMC Article | 12/17/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| human pol gammaB exhibits a catalytic subunit- and substrate DNA-dependent dimerization. | Each monomer of the dimeric accessory protein for human mitochondrial DNA polymerase has a distinct role in conferring processivity.
Lee YS, Lee S, Demeler B, Molineux IJ, Johnson KA, Yin YW., Free PMC Article | 02/1/2010 |
| Both increased and decreased expression of POLGbeta altered nucleoid structure and precipitated a marked decrease in 7S DNA molecules, which form short displacement-loops on mitochondrial DNA. | The accessory subunit of mitochondrial DNA polymerase gamma determines the DNA content of mitochondrial nucleoids in human cultured cells.
Di Re M, Sembongi H, He J, Reyes A, Yasukawa T, Martinsson P, Bailey LJ, Goffart S, Boyd-Kirkup JD, Wong TS, Fersht AR, Spelbrink JN, Holt IJ., Free PMC Article | 01/21/2010 |
| Study represents the first structure-function analysis of the thumb subdomain in pol gamma and examines the consequences of mitochondrial disease mutations in this region. | Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
Kasiviswanathan R, Longley MJ, Chan SS, Copeland WC., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers.
Michiels S, Danoy P, Dessen P, Bera A, Boulet T, Bouchardy C, Lathrop M, Sarasin A, Benhamou S. Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C.
Huang H, Shiffman ML, Cheung RC, Layden TJ, Friedman S, Abar OT, Yee L, Chokkalingam AP, Schrodi SJ, Chan J, Catanese JJ, Leong DU, Ross D, Hu X, Monto A, McAllister LB, Broder S, White T, Sninsky JJ, Wright TL. | 03/13/2008 |
| PolB gamma can bind double-stranded DNA and may play a role in DNA replication or repair | DNA binding properties of human pol gammaB.
Carrodeguas JA, Pinz KG, Bogenhagen DF. | 01/21/2010 |