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Results: 1 to 20 of 42

1.

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.

Milenkovic D, Matic S, Kühl I, Ruzzenente B, Freyer C, Jemt E, Park CB, Falkenberg M, Larsson NG.

Hum Mol Genet. 2013 May 15;22(10):1983-93. doi: 10.1093/hmg/ddt051. Epub 2013 Feb 7.

PMID:
23393161
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

El-Hattab AW, Scaglia F.

Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Review.

PMID:
23385875
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

PMID:
23313956
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A.

Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31.

PMID:
22980518
[PubMed - indexed for MEDLINE]
5.

Blood cell mitochondrial DNA content and premature ovarian aging.

Bonomi M, Somigliana E, Cacciatore C, Busnelli M, Rossetti R, Bonetti S, Paffoni A, Mari D, Ragni G, Persani L; Italian Network for the study of Ovarian Dysfunctions.

PLoS One. 2012;7(8):e42423. Epub 2012 Aug 3.

PMID:
22879975
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Measurement of mitochondrial DNA copy number.

Venegas V, Halberg MC.

Methods Mol Biol. 2012;837:327-35. doi: 10.1007/978-1-61779-504-6_22.

PMID:
22215558
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
22176657
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
21455106
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.

Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S.

J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4.

PMID:
21378381
[PubMed - indexed for MEDLINE]
10.

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM.

BMC Neurol. 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4.

PMID:
21235791
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Real-time quantitative PCR analysis of mitochondrial DNA content.

Venegas V, Wang J, Dimmock D, Wong LJ.

Curr Protoc Hum Genet. 2011 Jan;Chapter 19:Unit 19.7.. doi: 10.1002/0471142905.hg1907s68.

PMID:
21234878
[PubMed - indexed for MEDLINE]
12.

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF.

Biochim Biophys Acta. 2011 Mar;1812(3):321-5. doi: 10.1016/j.bbadis.2010.11.012. Epub 2010 Dec 5.

PMID:
21138766
[PubMed - indexed for MEDLINE]
Free Article
13.

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Compton AG, Troedson C, Wilson M, Procopis PG, Li FY, Brundage EK, Yamazaki T, Thorburn DR, Wong LJ.

Mitochondrion. 2011 Jan;11(1):104-7. doi: 10.1016/j.mito.2010.07.012. Epub 2010 Aug 12.

PMID:
20708716
[PubMed - indexed for MEDLINE]
14.

Mitochondrial DNA depletion and its correlation with TFAM, TFB1M, TFB2M and POLG in human diffusely infiltrating astrocytomas.

Correia RL, Oba-Shinjo SM, Uno M, Huang N, Marie SK.

Mitochondrion. 2011 Jan;11(1):48-53. doi: 10.1016/j.mito.2010.07.001. Epub 2010 Jul 17.

PMID:
20643228
[PubMed - indexed for MEDLINE]
15.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295
[PubMed - indexed for MEDLINE]
16.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

PMID:
20448188
[PubMed - indexed for MEDLINE]
Free Article
17.

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

Stumpf JD, Bailey CM, Spell D, Stillwagon M, Anderson KS, Copeland WC.

Hum Mol Genet. 2010 Jun 1;19(11):2123-33. doi: 10.1093/hmg/ddq089. Epub 2010 Feb 25.

PMID:
20185557
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C.

Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Review.

PMID:
19748572
[PubMed - indexed for MEDLINE]
Free Article
19.

Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.

Singh KK, Ayyasamy V, Owens KM, Koul MS, Vujcic M.

J Hum Genet. 2009 Sep;54(9):516-24. doi: 10.1038/jhg.2009.71. Epub 2009 Jul 24.

PMID:
19629138
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.

PMID:
19578034
[PubMed - indexed for MEDLINE]

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