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Items: 1 to 20 of 125

1.

Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.

Blanco-Grau A, Bonaventura-Ibars I, Coll-Cantí J, Melià MJ, Martinez R, Martínez-Gallo M, Andreu AL, Pinós T, García-Arumí E.

Genes Brain Behav. 2013 Nov;12(8):812-20. doi: 10.1111/gbb.12089. Epub 2013 Oct 25.

2.

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.

Gene. 2013 Feb 25;515(2):372-5. doi: 10.1016/j.gene.2012.12.066. Epub 2012 Dec 20.

PMID:
23266623
3.

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.

Kara B, Arıkan M, Maraş H, Abacı N, Cakıris A, Ustek D.

Mol Genet Metab. 2012 Nov;107(3):389-93. doi: 10.1016/j.ymgme.2012.06.013. Epub 2012 Jul 10.

PMID:
22819295
4.

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.

D'Aurelio M, Vives-Bauza C, Davidson MM, Manfredi G.

Hum Mol Genet. 2010 Jan 15;19(2):374-86. doi: 10.1093/hmg/ddp503. Epub 2009 Oct 29.

5.

A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene.

Rak M, Tetaud E, Duvezin-Caubet S, Ezkurdia N, Bietenhader M, Rytka J, di Rago JP.

J Biol Chem. 2007 Nov 23;282(47):34039-47. Epub 2007 Sep 12.

6.
7.

Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients.

Kucharczyk R, Rak M, di Rago JP.

Biochim Biophys Acta. 2009 May;1793(5):817-24. doi: 10.1016/j.bbamcr.2009.02.011. Epub 2009 Mar 6.

8.

Expanding the clinical phenotypes of MT-ATP6 mutations.

López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch R, Barraquer E, Jericó I, Ruiz-Pesini E, Montoya J.

Hum Mol Genet. 2014 Dec 1;23(23):6191-200. doi: 10.1093/hmg/ddu339. Epub 2014 Jun 30.

9.

Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy.

Sgarbi G, Casalena GA, Baracca A, Lenaz G, DiMauro S, Solaini G.

Arch Neurol. 2009 Aug;66(8):951-7. doi: 10.1001/archneurol.2009.134.

PMID:
19667215
10.

NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.

López-Gallardo E, Solano A, Herrero-Martín MD, Martínez-Romero I, Castaño-Pérez MD, Andreu AL, Herrera A, López-Pérez MJ, Ruiz-Pesini E, Montoya J.

J Med Genet. 2009 Jan;46(1):64-7. doi: 10.1136/jmg.2008.060616.

PMID:
19124644
11.

NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation.

Wojewoda M, Duszyński J, Szczepanowska J.

Int J Biochem Cell Biol. 2011 Aug;43(8):1178-86. doi: 10.1016/j.biocel.2011.04.011. Epub 2011 Apr 28.

PMID:
21550418
12.

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G.

Biochim Biophys Acta. 2007 Jul;1767(7):913-9. Epub 2007 May 18.

13.

Antioxidant defence systems and generation of reactive oxygen species in osteosarcoma cells with defective mitochondria: effect of selenium.

Wojewoda M, Duszyński J, Szczepanowska J.

Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):890-6. doi: 10.1016/j.bbabio.2010.01.035. Epub 2010 Feb 4.

14.

Heterogeneous patterns of tissue injury in NARP syndrome.

Gelfand JM, Duncan JL, Racine CA, Gillum LA, Chin CT, Zhang Y, Zhang Q, Wong LJ, Roorda A, Green AJ.

J Neurol. 2011 Mar;258(3):440-8. doi: 10.1007/s00415-010-5775-1. Epub 2010 Oct 16.

15.

Consequences of the pathogenic T9176C mutation of human mitochondrial DNA on yeast mitochondrial ATP synthase.

Kucharczyk R, Ezkurdia N, Couplan E, Procaccio V, Ackerman SH, Blondel M, di Rago JP.

Biochim Biophys Acta. 2010 Jun-Jul;1797(6-7):1105-12. doi: 10.1016/j.bbabio.2009.12.022. Epub 2010 Jan 4.

16.

Mitochondrial DNA mutations provoke dominant inhibition of mitochondrial inner membrane fusion.

Sauvanet C, Duvezin-Caubet S, Salin B, David C, Massoni-Laporte A, di Rago JP, Rojo M.

PLoS One. 2012;7(11):e49639. doi: 10.1371/journal.pone.0049639. Epub 2012 Nov 16.

17.

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.

J Med Genet. 2007 Apr;44(4):e74.

18.

Defining the impact on yeast ATP synthase of two pathogenic human mitochondrial DNA mutations, T9185C and T9191C.

Kabala AM, Lasserre JP, Ackerman SH, di Rago JP, Kucharczyk R.

Biochimie. 2014 May;100:200-6. doi: 10.1016/j.biochi.2013.11.024. Epub 2013 Dec 4.

PMID:
24316278
19.

Mitochondrial encephalomyopathy in Drosophila.

Celotto AM, Frank AC, McGrath SW, Fergestad T, Van Voorhies WA, Buttle KF, Mannella CA, Palladino MJ.

J Neurosci. 2006 Jan 18;26(3):810-20.

20.

The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.

Mattiazzi M, Vijayvergiya C, Gajewski CD, DeVivo DC, Lenaz G, Wiedmann M, Manfredi G.

Hum Mol Genet. 2004 Apr 15;13(8):869-79. Epub 2004 Mar 3.

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