Citations for
1MGME1, POLG
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M.
Hum Mol Genet 23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30. 2014
2C10orf2, PEO1, PEO3, POLG
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.
Brandon BR, Diederich NJ, Soni M, Witte K, Weinhold M, Krause M, Jackson S.
J Neurol 260(7):1931-3. doi: 10.1007/s00415-013-6975-2. Epub 2013 May 30. No abstract available. 2013
3POLG
Manganese superoxide dismutase is a mitochondrial fidelity protein that protects Polγ against UV-induced inactivation.
Bakthavatchalu V, Dey S, Xu Y, Noel T, Jungsuwadee P, Holley AK, Dhar SK, Batinic-Haberle I, St Clair DK.
Oncogene 31(17):2129-39. doi: 10.1038/onc.2011.407. Epub 2011 Sep 12. 2012
4MCSZ, NEIL1, NEIL2, PNXP, POLG
Role of human DNA glycosylase Nei-like 2 (NEIL2) and single strand break repair protein polynucleotide kinase 3'-phosphatase in maintenance of mitochondrial genome.
Mandal SM, Hegde ML, Chatterjee A, Hegde PM, Szczesny B, Banerjee D, Boldogh I, Gao R, Falkenberg M, Gustafsson CM, Sarkar PS, Hazra TK.
J Biol Chem 287(4):2819-29. doi: 10.1074/jbc.M111.272179. Epub 2011 Nov 30. 2012
5POLG
Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM.
Neuromuscul Disord 21(7):483-8. Epub 2011 May 7. 2011
6AMS1, PEO1, POLG
The unfolding clinical spectrum of POLG mutations.
Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ.
J Med Genet 46(11):776-85. Epub 2009 Jul 2.PMID: 19578034 2009
7AMS1, C10orf2, IOSCA, POLG
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.
Hum Mol Genet 17(23):3822-35. Epub 2008 Sep 5. 2008
8AMS1, MNGIE2, PEO1, PNDC, POLG, SANDO
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.
Hum Mutat 29(9):E150-E172. [Epub ahead of print] 2008
9POLG
Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer.
Blomberg Jensen M, Leffers H, Petersen JH, Daugaard G, Skakkebaek NE, Rajpert-De Meyts E.
Ann Oncol 19(11):1910-4. Epub 2008 Jul 15. 2008
10AMS1, POLG
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF.
Arch Neurol 65(1):133-6.PMID: 18195151 2008
11OLEN, POLG
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA.
Brain 131(Pt 3):818-28. Epub 2008 Jan 30.PMID: 18238797 2008
12PNDC, POLG
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K.
Epilepsia 49(6):1038-45. Epub 2008 Feb 20.PMID: 18294203 2008
13AMS1, POLG
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Van Goethem G, Dimauro S, Thorburn DR, Suomalainen A.
Eur J Hum Genet 15(7):779-83. Epub 2007 Apr 11. 2007
14POLG, MPV17, MDDS3
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rotig A.
J Pediatr 150(5):531-4, 534.e1-6. 2007
15AMS1, POLG
Do carriers of POLG mutation W748S have disease manifestations?
RantamŠki M, Luoma P, Virta JJ, Rinne JO, Paetau A, Suomalainen A, Udd B.
Clin Genet 72(6):532-7. Epub 2007 Sep 25. 2007
16LIG3, POLG
A novel interaction between DNA ligase III and DNA polymerase gamma plays an essential role in mitochondrial DNA stability.
De A, Campbell C.
Biochem J 402(1):175-86. 2007
17PNDC, POLG
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA.
Eur J Pediatr 166(3):229-34. Epub 2006 Sep 7. 2007
18POLG, SANDO
SANDO: two novel mutations in POLG1 gene.
Gago MF, Rosas MJ, Guimarães J, Ferreira M, Vilarinho L, Castro L, Carpenter S.
Neuromuscul Disord 16(8):507-9. Epub 2006 Aug 21. 2006
19PNDC, POLG
POLG1 mutations associated with progressive encephalopathy in childhood.
Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.
J Neuropathol Exp Neurol 65(8):758-68. 2006
20PEO1, POLG
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
Gonzalez-Vioque E, Blazquez A, Fernandez-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernandez-Moreno MA, Garesse R, Arenas J, Martin MA.
Arch Neurol 63(1):107-11. 2006
21POLG
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.
Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM.
Nat Genet 38(5):515-517. Epub 2006 Apr 9. 2006
22C10orf2, POLG
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Naimi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rotig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V.
Eur J Hum Genet 14(8):917-22. Epub 2006 Apr 26. 2006
23POLG,AMS1, PNDC, SANDO
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA.
Brain 129(Pt 7):1685-92. Epub 2006 Apr 25. 2006
24POLG, AMS1, PNDC, SANDO
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.
Brain 129(Pt 7):1674-84. Epub 2006 Apr 18. 2006
25PNDC, POLG
Molecular diagnosis of Alpers syndrome.
Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK.
J Hepatol 45(1):108-16. Epub 2006 Feb 20. 2006
26POLG
Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.
Hance N, Ekstrand MI, Trifunovic A.
Hum Mol Genet 14(13):1775-83. Epub 2005 May 11. 2005
27POLG, AMS1
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
Luoma PT, Luo N, Loscher WN, Farr CL, Horvath R, Wanschitz J, Kiechl S, Kaguni LS, Suomalainen A.
Hum Mol Genet 14(14):1907-20. Epub 2005 May 25. 2005
28AMS1, POLG
Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin.
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A.
Am J Hum Genet 77(3):430-41. Epub 2005 Jul 27. 2005
29POLG
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging.
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, Morrow JD, Van Remmen H, Sedivy JM, Yamasoba T, Tanokura M, Weindruch R, Leeuwenburgh C, Prolla TA.
Science 309(5733):481-4. 2005
30POLG, PNDC
POLG mutations and Alpers syndrome.
Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S.
Ann Neurol 57(6):921-3. 2005
31SANDO, POLG
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.
Neurology 64(7):1204-8. 2005
32PEO1, POLG
Consequences of mutations in human DNA polymerase gamma.
Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.
Gene 354:125-31. Review. 2005
33POLG
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
Chan SS, Longley MJ, Copeland WC.
J Biol Chem 280(36):31341-6. Epub 2005 Jul 16. 2005
34POLG, SANDO
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V.
Neurology 62(2):316-8. 2004
35POLG, PNDC
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
Naviaux RK, Nguyen KV.
Ann Neurol 55(5):706-12. 2004
36C10orf2, PEO1, PEO3, POLG, SLC25A4
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN.
Nucleic Acids Res 32(10):3053-64. Print 2004. 2004
37PEO1, POLG
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC.
Nat Struct Mol Biol 11(8):770-6. Epub 2004 Jul 18. 2004
38PEO1, POLG
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.
Lancet 364(9437):875-82. 2004
39PEO1, POLG
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.
Hum Mutat 22(6):498-9. 2003
40C10orf2, PEO2, PEO3, PEO4, POLG, SLC25A4
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.
Neurology 60(8):1354-6. 2003
41MNGIE2, POLG
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.
Eur J Hum Genet 11(7):547-9. 2003
42PEO1, POLG
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC.
J Biol Chem 277(18):15225-8. 2002
43PEO1, POLG
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.
Ann Neurol 52(2):211-9. 2002
44BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
Nuclear genetic defects of oxidative phosphorylation.
Shoubridge EA.
Hum Mol Genet 10(20):2277-84. Review. 2001
45PEO1, POLG
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C.
Nat Genet 28(3):211-2. 2001
46POLG
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.
Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, Harrison RF, Hughes B, Barrett T, Bailey DM, Mehmet D, Jequier AM, Hargreave TB, Kao SH, Cummins JM, Barton DE, Cooke HJ, Wei YH, Wichmann L, Poulton J, Jacobs HT.
Nat Genet 29(3):261-2. 2001
47POLG
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
Rovio A, et al.
Eur J Hum Genet 7(2):140-6. 1999
48POLG
A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25.
Walker RL, et al.
Genomics 40 : 376-378. 1997
49POLG
Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs).
Zullo SJ, Butler L, Zahorchak RJ, Macville M, Wilkes C, Merril CR.
Cytogenet Cell Genet 78(3-4):281-4. 1997
50POLG
Mitochondrial DNA polymerases from yeast to man: a new family of polymerases.
Lecrenier N, Van Der Bruggen P, Foury F.
Gene 185(1):147-52. 1997
51POLG
Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma.
Ropp PA, et al.
Genomics 36 : 449-458. 1996