1 | AMS1, POLG
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| POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.
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| Nuzhnyi E, Seliverstov Y, Klyushnikov S, Krylova T, Tsygankova P, Bychkov I, Zakharova E, Konovalov R, Fedin P, Abramycheva N, Illarioshkin S.
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| Clin Neurol Neurosurg. Feb;201:106462. doi: 10.1016/j.clineuro.2020.106462. Epub 2021 Jan 7. 2021
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2 | POLG, SSBP1
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| De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans
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| Lee Y, Kim T, Lee M, So S, Karagozlu MZ, Seo GH, Choi IH, Lee PCW, Kim CJ, Kang E, Lee BH.
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| Genes (Basel). Feb 17;12(2):284. doi: 10.3390/genes12020284. 2021
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3 | POLG, SANDO
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| Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.
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| Belyakova-Bodina A, Ratanov M, Schneider E, Seliverstov Y, Nuzhnyi E, Klyushnikov S, Broutian A.
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| J Neurol. Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12 2021
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4 | PNDC, POLG
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| POLG gene mutation. Clinico-neuropathological study.
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| Tarka S, Laure-Kamionowska M, Wierzba-Bobrowicz T, Witulska K, Ciara E, Szymańska K, Krajewski P, Stępień T, Acewicz A, Felczak P.
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| Folia Neuropathol. 58(4):386-392. doi: 10.5114/fn.2020.102441. 2020
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5 | POLG
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| Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon
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| Khan YA, Jungreis I, Wright JC, Mudge JM, Choudhary JS, Firth AE, Kellis M.
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| BMC Genet. Mar 6;21(1):25. doi: 10.1186/s12863-020-0828-7. 2020
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6 | POLG
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| POLG-related disorders and their neurological manifestations
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| Rahman S, Copeland WC.
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| Nat Rev Neurol. Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. 2019
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7 | POLG, POLR3G
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| RNA Polymerase III Subunit POLR3G Regulates Specific Subsets of PolyA+ and SmallRNA Transcriptomes and Splicing in Human Pluripotent Stem Cells.
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| Lund RJ, Rahkonen N, Malonzo M, Kauko L, Emani MR, Kivinen V, Närvä E, Kemppainen E, Laiho A, Skottman H, Hovatta O, Rasool O, Nykter M, Lähdesmäki H, Lahesmaa R.
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| Stem Cell Reports. May 9;8(5):1442-1454. doi: 10.1016/j.stemcr.2017.04.016. 2017
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8 | OLEN, POLG
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| Understanding the Epilepsy in POLG Related Disease
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| Hikmat O, Eichele T, Tzoulis C, Bindoff LA.
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| Int J Mol Sci. Aug 24;18(9):1845. doi: 10.3390/ijms18091845. 2017
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9 | POLG
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| The presence of anaemia negatively influences survival in patients with POLG disease
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| Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA.
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| J Inherit Metab Dis. Nov;40(6):861-866. doi: 10.1007/s10545-017-0084-9. Epub 2017 Sep 1. Erratum in: J Inherit Metab Dis. 2017 Sep 26 2017
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10 | OLEN, POLG
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| The spectrum of epilepsy caused by POLG mutations.
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| Janssen W, Quaegebeur A, Van Goethem G, Ann L, Smets K, Vandenberghe R, Van Paesschen W.
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| Acta Neurol Belg. 2016
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11 | MGME1, POLG
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| Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
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| 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.
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| Hum Mol Genet 23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30.
2014
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12 | C10orf2, PEO1, PEO3, POLG
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| Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.
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| Brandon BR, Diederich NJ, Soni M, Witte K, Weinhold M, Krause M, Jackson S.
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| J Neurol 260(7):1931-3. doi: 10.1007/s00415-013-6975-2. Epub 2013 May 30. No abstract available.
2013
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13 | POLG
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| Manganese superoxide dismutase is a mitochondrial fidelity protein that protects Polγ against UV-induced inactivation.
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| Bakthavatchalu V, Dey S, Xu Y, Noel T, Jungsuwadee P, Holley AK, Dhar SK, Batinic-Haberle I, St Clair DK.
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| Oncogene 31(17):2129-39. doi: 10.1038/onc.2011.407. Epub 2011 Sep 12.
2012
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14 | MCSZ, NEIL1, NEIL2, PNXP, POLG
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| Role of human DNA glycosylase Nei-like 2 (NEIL2) and single strand break repair protein polynucleotide kinase 3'-phosphatase in maintenance of mitochondrial genome.
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| Mandal SM, Hegde ML, Chatterjee A, Hegde PM, Szczesny B, Banerjee D, Boldogh I, Gao R, Falkenberg M, Gustafsson CM, Sarkar PS, Hazra TK.
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| J Biol Chem 287(4):2819-29. doi: 10.1074/jbc.M111.272179. Epub 2011 Nov 30.
2012
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15 | POLG
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| Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
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| Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM.
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| Neuromuscul Disord 21(7):483-8. Epub 2011 May 7.
2011
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16 | AMS1, PEO1, POLG
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| The unfolding clinical spectrum of POLG mutations.
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| 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.
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| J Med Genet 46(11):776-85. Epub 2009 Jul 2.PMID: 19578034 2009
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17 | AMS1, C10orf2, IOSCA, POLG
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| Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
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| Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.
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| Hum Mol Genet 17(23):3822-35. Epub 2008 Sep 5. 2008
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18 | AMS1, MNGIE2, PEO1, PNDC, POLG, SANDO
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| Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
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| 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.
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| Hum Mutat 29(9):E150-E172. [Epub ahead of print] 2008
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19 | POLG
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| Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer.
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| Blomberg Jensen M, Leffers H, Petersen JH, Daugaard G, Skakkebaek NE, Rajpert-De Meyts E.
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| Ann Oncol 19(11):1910-4. Epub 2008 Jul 15.
2008
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20 | AMS1, POLG
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| POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
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| Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF.
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| Arch Neurol 65(1):133-6.PMID: 18195151 2008
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21 | OLEN, POLG
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| POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
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| Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA.
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| Brain 131(Pt 3):818-28. Epub 2008 Jan 30.PMID: 18238797 2008
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22 | PNDC, POLG
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| Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
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| Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K.
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| Epilepsia 49(6):1038-45. Epub 2008 Feb 20.PMID: 18294203 2008
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23 | AMS1, POLG
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| Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
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| Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Van Goethem G, Dimauro S, Thorburn DR, Suomalainen A.
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| Eur J Hum Genet 15(7):779-83. Epub 2007 Apr 11. 2007
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24 | POLG, MPV17, MDDS3
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| Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
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| Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rotig A.
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| J Pediatr 150(5):531-4, 534.e1-6. 2007
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25 | AMS1, POLG
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| Do carriers of POLG mutation W748S have disease manifestations?
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| RantamŠki M, Luoma P, Virta JJ, Rinne JO, Paetau A, Suomalainen A, Udd B.
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| Clin Genet 72(6):532-7. Epub 2007 Sep 25. 2007
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26 | LIG3, POLG
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| A novel interaction between DNA ligase III and DNA polymerase gamma plays an essential role in mitochondrial DNA stability.
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| De A, Campbell C.
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| Biochem J 402(1):175-86.
2007
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27 | PNDC, POLG
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| Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
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| 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.
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| Eur J Pediatr 166(3):229-34. Epub 2006 Sep 7. 2007
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28 | POLG, SANDO
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| SANDO: two novel mutations in POLG1 gene.
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| Gago MF, Rosas MJ, Guimarães J, Ferreira M, Vilarinho L, Castro L, Carpenter S.
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| Neuromuscul Disord 16(8):507-9. Epub 2006 Aug 21.
2006
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29 | PNDC, POLG
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| POLG1 mutations associated with progressive encephalopathy in childhood.
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| Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.
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| J Neuropathol Exp Neurol 65(8):758-68.
2006
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30 | PEO1, POLG
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| Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
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| 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.
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| Arch Neurol 63(1):107-11. 2006
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31 | POLG
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| High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.
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| Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM.
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| Nat Genet 38(5):515-517. Epub 2006 Apr 9. 2006
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32 | C10orf2, POLG
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| Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
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| 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.
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| Eur J Hum Genet 14(8):917-22. Epub 2006 Apr 26. 2006
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33 | POLG,AMS1, PNDC, SANDO
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| The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
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| Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA.
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| Brain 129(Pt 7):1685-92. Epub 2006 Apr 25. 2006
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34 | POLG, AMS1, PNDC, SANDO
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| Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
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| 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.
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| Brain 129(Pt 7):1674-84. Epub 2006 Apr 18. 2006
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35 | PNDC, POLG
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| Molecular diagnosis of Alpers syndrome.
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| Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK.
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| J Hepatol 45(1):108-16. Epub 2006 Feb 20. 2006
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36 | POLG
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| Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis.
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| Hance N, Ekstrand MI, Trifunovic A.
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| Hum Mol Genet 14(13):1775-83. Epub 2005 May 11. 2005
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37 | POLG, AMS1
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| Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
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| Luoma PT, Luo N, Loscher WN, Farr CL, Horvath R, Wanschitz J, Kiechl S, Kaguni LS, Suomalainen A.
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| Hum Mol Genet 14(14):1907-20. Epub 2005 May 25. 2005
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38 | AMS1, POLG
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| Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin.
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| 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.
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| Am J Hum Genet 77(3):430-41. Epub 2005 Jul 27. 2005
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39 | POLG
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| Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging.
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| 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.
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| Science 309(5733):481-4. 2005
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40 | POLG, PNDC
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| POLG mutations and Alpers syndrome.
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| Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S.
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| Ann Neurol 57(6):921-3. 2005
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41 | SANDO, POLG
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| Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
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| Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.
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| Neurology 64(7):1204-8. 2005
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42 | PEO1, POLG
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| Consequences of mutations in human DNA polymerase gamma.
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| Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC.
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| Gene 354:125-31. Review. 2005
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43 | POLG
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| The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
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| Chan SS, Longley MJ, Copeland WC.
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| J Biol Chem 280(36):31341-6. Epub 2005 Jul 16. 2005
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44 | POLG, SANDO
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| POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
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| Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V.
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| Neurology 62(2):316-8. 2004
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45 | POLG, PNDC
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| POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
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| Naviaux RK, Nguyen KV.
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| Ann Neurol 55(5):706-12. 2004
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46 | C10orf2, PEO1, PEO3, POLG, SLC25A4
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| Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
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| Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN.
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| Nucleic Acids Res 32(10):3053-64. Print 2004. 2004
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47 | PEO1, POLG
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| Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
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| Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC.
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| Nat Struct Mol Biol 11(8):770-6. Epub 2004 Jul 18. 2004
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48 | PEO1, POLG
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| Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
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| Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.
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| Lancet 364(9437):875-82. 2004
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49 | PEO1, POLG
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| POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
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| Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.
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| Hum Mutat 22(6):498-9. 2003
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50 | C10orf2, PEO2, PEO3, PEO4, POLG, SLC25A4
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| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
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| Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.
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| Neurology 60(8):1354-6. 2003
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51 | MNGIE2, POLG
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| 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.
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| Eur J Hum Genet 11(7):547-9.
2003
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52 | PEO1, POLG
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| Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
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| Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC.
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| J Biol Chem 277(18):15225-8. 2002
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53 | PEO1, POLG
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| Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
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| Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.
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| Ann Neurol 52(2):211-9. 2002
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54 | BCS1L, 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
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| Nuclear genetic defects of oxidative phosphorylation.
|
| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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55 | PEO1, POLG
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| Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
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| Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C.
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| Nat Genet 28(3):211-2. 2001
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56 | POLG
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| 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.
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| Nat Genet 29(3):261-2. 2001
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57 | POLG
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| Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
|
| Rovio A, et al.
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| Eur J Hum Genet 7(2):140-6. 1999
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58 | POLG
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| A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25.
|
| Walker RL, et al.
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| Genomics 40 : 376-378. 1997
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59 | POLG
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| 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).
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| Zullo SJ, Butler L, Zahorchak RJ, Macville M, Wilkes C, Merril CR.
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| Cytogenet Cell Genet 78(3-4):281-4. 1997
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60 | POLG
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| Mitochondrial DNA polymerases from yeast to man: a new family of polymerases.
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| Lecrenier N, Van Der Bruggen P, Foury F.
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| Gene 185(1):147-52. 1997
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61 | POLG
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| Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma.
|
| Ropp PA, et al.
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| Genomics 36 : 449-458. 1996
|