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Items: 1 to 20 of 34

1.

Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.

Nurminen A, Farnum GA, Kaguni LS.

BBA Clin. 2017 Apr 18;7:147-156. doi: 10.1016/j.bbacli.2017.04.001. eCollection 2017 Jun.

2.

Human mitochondrial DNA replication machinery and disease.

Young MJ, Copeland WC.

Curr Opin Genet Dev. 2016 Jun;38:52-62. doi: 10.1016/j.gde.2016.03.005. Epub 2016 Apr 9. Review.

3.

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S.

PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.

4.

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Singh B, Owens KM, Bajpai P, Desouki MM, Srinivasasainagendra V, Tiwari HK, Singh KK.

PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.

5.

Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms.

Qian Y, Ziehr JL, Johnson KA.

Front Genet. 2015 Apr 9;6:135. doi: 10.3389/fgene.2015.00135. eCollection 2015.

6.

Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.

Zabalza R, Nurminen A, Kaguni LS, Garesse R, Gallardo ME, Bornstein B.

BMC Res Notes. 2014 Dec 8;7:883. doi: 10.1186/1756-0500-7-883.

7.

Defects of mitochondrial DNA replication.

Copeland WC.

J Child Neurol. 2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Epub 2014 Jun 30. Review.

8.

Mitochondrial genome maintenance in health and disease.

Copeland WC, Longley MJ.

DNA Repair (Amst). 2014 Jul;19:190-8. doi: 10.1016/j.dnarep.2014.03.010. Epub 2014 Apr 26. Review.

9.

Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

Farnum GA, Nurminen A, Kaguni LS.

Biochim Biophys Acta. 2014 Jul;1837(7):1113-21. doi: 10.1016/j.bbabio.2014.01.021. Epub 2014 Feb 7.

10.

Clinical and molecular features of POLG-related mitochondrial disease.

Stumpf JD, Saneto RP, Copeland WC.

Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a011395. doi: 10.1101/cshperspect.a011395. Review.

11.

Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

Brinjikji W, Swanson JW, Zabel C, Dyck PJ, Tracy JA, Gavrilova RH.

JIMD Rep. 2011;1:89-96. doi: 10.1007/8904_2011_22. Epub 2011 Jun 22.

12.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

13.

Defects in mitochondrial DNA replication and human disease.

Copeland WC.

Crit Rev Biochem Mol Biol. 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. Review.

14.

Replication pauses of the wild-type and mutant mitochondrial DNA polymerase gamma: a simulation study.

Song Z, Cao Y, Samuels DC.

PLoS Comput Biol. 2011 Nov;7(11):e1002287. doi: 10.1371/journal.pcbi.1002287. Epub 2011 Nov 17.

15.

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Euro L, Farnum GA, Palin E, Suomalainen A, Kaguni LS.

Nucleic Acids Res. 2011 Nov;39(21):9072-84. doi: 10.1093/nar/gkr618. Epub 2011 Aug 8. Review.

16.

Effect of the Y955C mutation on mitochondrial DNA polymerase nucleotide incorporation efficiency and fidelity.

Estep PA, Johnson KA.

Biochemistry. 2011 Jul 26;50(29):6376-86. doi: 10.1021/bi200280r. Epub 2011 Jul 5.

17.

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.

Pronicka E, Weglewska-Jurkiewicz A, Pronicki M, Sykut-Cegielska J, Kowalski P, Pajdowska M, Jankowska I, Kotulska K, Kalicinski P, Jakobkiewicz-Banecka J, Wegrzyn G.

Med Sci Monit. 2011 Apr;17(4):CR203-9.

18.

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD, Copeland WC.

Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8. Review.

19.

Role of histidine 932 of the human mitochondrial DNA polymerase in nucleotide discrimination and inherited disease.

Batabyal D, McKenzie JL, Johnson KA.

J Biol Chem. 2010 Oct 29;285(44):34191-201. doi: 10.1074/jbc.M110.156182. Epub 2010 Aug 3.

20.

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J.

BMC Neurol. 2010 May 3;10:29. doi: 10.1186/1471-2377-10-29.

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