| 1 | MT-ATP6
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| NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation.
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| Wojewoda M, Duszyński J, Szczepanowska J.
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| Int J Biochem Cell Biol. 43(8):1178-86. 2011
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| 2 | MT-ATP6, SNE1
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| Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
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| Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP.
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| Biochem Biophys Res Commun 412(2):245-8. Epub 2011 Jul 27.
2011
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| 3 | MT-ATP6, MT-CO2, MT-RNR1, MT-RNR2
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| Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients.
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| Kloss-Brandstätter A, Schäfer G, Erhart G, Hüttenhofer A, Coassin S, Seifarth C, Summerer M, Bektic J, Klocker H, Kronenberg F.
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| Am J Hum Genet 87(6):802-12.PMID: 21129724 2010
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| 4 | MT-ATP6, NARP
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| NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
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| 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.
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| J Med Genet 46(1):64-7.
2009
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| 5 | MT-ATP6, MT-ATP8, MTCMH10
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| Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
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| Ware SM, El-Hassan N, Kahler SG, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong LJ.
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| J Med Genet 46(5):308-14. Epub 2009 Feb 2.
2009
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| 6 | SNE1, MT-ATP6
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| Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
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| Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF.
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| J Med Genet 44(12):797-9. 2007
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| 7 | MT-ATP6
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| Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.
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| Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M, Lenaz G, Carelli V, Solaini G.
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| Biochim Biophys Acta 1767(7):913-9. Epub 2007 May 18.
2007
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| 8 | MT-ATP6, NARP, SNE1
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| Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
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| Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ.
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| Neuropediatrics 38(6):313-6.PMID: 18461509 2007
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| 9 | MT-ATP6, MT-CO2, MT-ND4
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| New variants in the mitochondrial genomes of schizophrenic patients.
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| Martorell L, Segues T, Folch G, Valero J, Joven J, Labad A, Vilella E.
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| Eur J Hum Genet 14(5):520-8. 2006
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| 10 | SNE1, MT-ATP6
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| NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
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| Rojo A, Campos Y, S‡nchez JM, Bonaventura I, Aguilar M, Garc’a A, Gonz‡lez L, Rey MJ, Arenas J, OlivŽ M, Ferrer I.
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| Acta Neuropathol 111(6):610-6. Epub 2006 Mar 9. 2006
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| 11 | MT-ATP6
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| mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein.
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| Kaltimbacher V, Bonnet C, Lecoeuvre G, Forster V, Sahel JA, Corral-Debrinski M.
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| RNA 12(7):1408-17. Epub 2006 Jun 2. 2006
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| 12 | MAP6, MT-ATP6, SNE1
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| Two new mutations in the MTATP6 gene associated with Leigh syndrome.
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| Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E.
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| Neuropediatrics 36(5):314-8. 2005
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