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Items: 1 to 20 of 58

1.

Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

DeBalsi KL, Longley MJ, Hoff KE, Copeland WC.

J Biol Chem. 2017 Mar 10;292(10):4198-4209. doi: 10.1074/jbc.M116.773341. Epub 2017 Feb 2.

PMID:
28154168
2.

Therapeutic Targeting of the Mitochondria Initiates Excessive Superoxide Production and Mitochondrial Depolarization Causing Decreased mtDNA Integrity.

Pokrzywinski KL, Biel TG, Kryndushkin D, Rao VA.

PLoS One. 2016 Dec 28;11(12):e0168283. doi: 10.1371/journal.pone.0168283.

3.

Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team.

Saneto RP.

J Multidiscip Healthc. 2016 Jul 26;9:323-33. doi: 10.2147/JMDH.S84900. Review.

4.

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. Review.

PMID:
27065468
5.

Mitochondrial pathology in progressive cerebellar ataxia.

Bargiela D, Shanmugarajah P, Lo C, Blakely EL, Taylor RW, Horvath R, Wharton S, Chinnery PF, Hadjivassiliou M.

Cerebellum Ataxias. 2015 Dec 4;2:16. doi: 10.1186/s40673-015-0035-x.

6.

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.

7.

POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.

Young MJ, Humble MM, DeBalsi KL, Sun KY, Copeland WC.

Hum Mol Genet. 2015 Sep 15;24(18):5184-97. doi: 10.1093/hmg/ddv240.

8.
9.

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, Łusakowska A, Vizueta J, Sabat D, Lutyk D, Lower M, Piekutowska-Abramczuk D, Kaniak-Golik A, Pronicka E, Kamińska A, Bartnik E, Golik P, Tońska K.

Hum Genet. 2015 Sep;134(9):951-66. doi: 10.1007/s00439-015-1578-x.

10.
11.

The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis.

Khatami M, Heidari MM, Mansouri R, Mousavi F.

Iran J Child Neurol. 2015 Winter;9(1):37-41.

12.

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.

13.

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.

Baruffini E, Ferrari J, Dallabona C, Donnini C, Lodi T.

Mitochondrion. 2015 Jan;20:52-63. doi: 10.1016/j.mito.2014.11.003.

14.

Defects of mitochondrial DNA replication.

Copeland WC.

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

15.

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. Review.

16.
17.

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sánchez I.

Cerebellum. 2014 Apr;13(2):269-302. doi: 10.1007/s12311-013-0539-y.

18.

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

Simon M, Chang RC, Bali DS, Wong LJ, Peng Y, Abdenur JE.

JIMD Rep. 2014;14:29-35. doi: 10.1007/8904_2013_280.

19.

A novel POLG gene mutation in a patient with SANDO.

Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M.

J Exp Integr Med. 2012;2(2). doi: 10.5455/jeim.200312.cr.001.

20.

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.

Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, Mousson de Camaret B, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, Paquis-Flucklinger V.

Eur J Hum Genet. 2014 Apr;22(4):542-50. doi: 10.1038/ejhg.2013.171.

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