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Items: 1 to 20 of 90

1.

ATP Synthase Diseases of Mitochondrial Genetic Origin.

Dautant A, Meier T, Hahn A, Tribouillard-Tanvier D, di Rago JP, Kucharczyk R.

Front Physiol. 2018 Apr 4;9:329. doi: 10.3389/fphys.2018.00329. eCollection 2018. Review.

2.

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.

3.

Yeast models of mutations in the mitochondrial ATP6 gene found in human cancer cells.

Niedzwiecka K, Kabala AM, Lasserre JP, Tribouillard-Tanvier D, Golik P, Dautant A, di Rago JP, Kucharczyk R.

Mitochondrion. 2016 Jul;29:7-17. doi: 10.1016/j.mito.2016.04.003. Epub 2016 Apr 12.

PMID:
27083309
4.

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S.

BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38.

5.

Yeast cells lacking the mitochondrial gene encoding the ATP synthase subunit 6 exhibit a selective loss of complex IV and unusual mitochondrial morphology.

Rak M, Tetaud E, Godard F, Sagot I, Salin B, Duvezin-Caubet S, Slonimski PP, Rytka J, di Rago JP.

J Biol Chem. 2007 Apr 13;282(15):10853-64. Epub 2007 Jan 29.

6.

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
7.

Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.

Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J.

Biochem J. 2015 Mar 15;466(3):601-11. doi: 10.1042/BJ20141462.

PMID:
25588698
8.
9.

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J.

Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.

PMID:
20566710
10.

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.

Järviaho T, Hurme-Niiranen A, Soini HK, Niinimäki R, Möttönen M, Savolainen ER, Hinttala R, Harila-Saari A, Uusimaa J.

Clin Genet. 2018 Feb;93(2):275-285. doi: 10.1111/cge.13100. Epub 2017 Dec 20.

PMID:
28708239
11.

Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases.

Meunier B, Fisher N, Ransac S, Mazat JP, Brasseur G.

Biochim Biophys Acta. 2013 Nov-Dec;1827(11-12):1346-61. doi: 10.1016/j.bbabio.2012.11.015. Epub 2012 Dec 5. Review.

12.

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

Kytövuori L, Lipponen J, Rusanen H, Komulainen T, Martikainen MH, Majamaa K.

J Neurol. 2016 Nov;263(11):2188-2195. Epub 2016 Aug 8.

PMID:
27502083
13.

Understanding structure, function, and mutations in the mitochondrial ATP synthase.

Xu T, Pagadala V, Mueller DM.

Microb Cell. 2015 Apr 1;2(4):105-125.

14.

Topological and functional study of subunit h of the F1Fo ATP synthase complex in yeast Saccharomyces cerevisiae.

Fronzes R, Chaignepain S, Bathany K, Giraud MF, Arselin G, Schmitter JM, Dautant A, Velours J, Brèthes D.

Biochemistry. 2003 Oct 21;42(41):12038-49.

PMID:
14556635
15.

Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.

Felhi R, Mkaouar-Rebai E, Sfaihi-Ben Mansour L, Alila-Fersi O, Tabebi M, Ben Rhouma B, Ammar M, Keskes L, Hachicha M, Fakhfakh F.

Biochem Biophys Res Commun. 2016 Apr 22;473(1):61-66. doi: 10.1016/j.bbrc.2016.03.050. Epub 2016 Mar 16.

PMID:
26993169
16.

Human F1F0 ATP synthase, mitochondrial ultrastructure and OXPHOS impairment: a (super-)complex matter?

Habersetzer J, Larrieu I, Priault M, Salin B, Rossignol R, Brèthes D, Paumard P.

PLoS One. 2013 Oct 2;8(10):e75429. doi: 10.1371/journal.pone.0075429. eCollection 2013.

17.

Supramolecular organization of the yeast F1Fo-ATP synthase.

Thomas D, Bron P, Weimann T, Dautant A, Giraud MF, Paumard P, Salin B, Cavalier A, Velours J, Brèthes D.

Biol Cell. 2008 Oct;100(10):591-601. doi: 10.1042/BC20080022.

PMID:
18447829
18.

Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant.

Boominathan A, Vanhoozer S, Basisty N, Powers K, Crampton AL, Wang X, Friedricks N, Schilling B, Brand MD, O'Connor MS.

Nucleic Acids Res. 2016 Nov 2;44(19):9342-9357. Epub 2016 Sep 4.

19.

Mitochondrial F1Fo-ATP synthase: the small subunits e and g associate with monomeric complexes to trigger dimerization.

Wagner K, Rehling P, Sanjuán Szklarz LK, Taylor RD, Pfanner N, van der Laan M.

J Mol Biol. 2009 Oct 2;392(4):855-61. doi: 10.1016/j.jmb.2009.07.059. Epub 2009 Jul 25.

PMID:
19635484
20.

[Structure, biogenesis and mechanism of function of the mitochondrial ATP synthase complex].

Wysocka-Kapcińska M, Kucharczyk R.

Postepy Biochem. 2012;58(3):344-52. Review. Polish.

PMID:
23373419

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