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Items: 1 to 20 of 68

1.

A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.

Jackson CB, Hahn D, Schröter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A.

Eur J Med Genet. 2017 Jun;60(6):345-351. doi: 10.1016/j.ejmg.2017.04.006. Epub 2017 Apr 13.

PMID:
28412374
2.

Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.

Alila-Fersi O, Chamkha I, Majdoub I, Gargouri L, Mkaouar-Rebai E, Tabebi M, Tlili A, Keskes L, Mahfoudh A, Fakhfakh F.

Biochem Biophys Res Commun. 2017 Feb 26;484(1):71-78. doi: 10.1016/j.bbrc.2017.01.070. Epub 2017 Jan 16.

PMID:
28104394
3.

Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation.

López-Gallardo E, Llobet L, Emperador S, Montoya J, Ruiz-Pesini E.

Environ Health Perspect. 2016 Sep;124(9):1399-405. doi: 10.1289/EHP182. Epub 2016 Apr 29.

4.

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
5.

[A novel mutation T8821G in mitochondrial DNA may be associated with Leber's hereditary optic neuropathy].

Gao M, Zhang S, Zhang Z, Zhao F, Zhang J, Liang M, Liu X, Wei Q, Tong Y, Qu J, Guan M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Aug;32(4):485-9. doi: 10.3760/cma.j.issn.1003-9406.2015.04.007. Chinese.

PMID:
26252090
6.

New haplotypes of the ATP synthase subunit 6 gene of mitochondrial DNA are associated with acute lymphoblastic leukemia in Saudi Arabia.

Yacoub HA, Mahmoud WM, El-Baz HA, Eid OM, El-Fayoumi RI, Mahmoud MM, Harakeh S, Abuzinadah OH.

Asian Pac J Cancer Prev. 2014;15(23):10433-8.

7.

Mitochondrial ATPase subunit 6 and cytochrome B gene variations in obese Turkish children.

Demir D, Türkkahraman D, Aktaş Samur A, Lüleci G, Akçurin S, Alper ÖM.

J Clin Res Pediatr Endocrinol. 2014 Dec;6(4):209-15. doi: 10.4274/Jcrpe.1601.

8.

Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.

De Praeter C, Vanlander A, Vanhaesebrouck P, Smet J, Seneca S, De Sutter P, Van Coster R.

Eur J Pediatr. 2015 Feb;174(2):267-70. doi: 10.1007/s00431-014-2370-y. Epub 2014 Jul 10.

PMID:
25009317
9.

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.

PMID:
24986921
10.

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

Honzik T, Tesarova M, Vinsova K, Hansikova H, Magner M, Kratochvilova H, Zamecnik J, Zeman J, Jesina P.

Mol Genet Metab. 2013 Jan;108(1):102-5. doi: 10.1016/j.ymgme.2012.11.002. Epub 2012 Nov 13.

PMID:
23206802
11.

Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.

Synofzik M, Schicks J, Wilhelm C, Bornemann A, Schöls L.

Eur J Neurol. 2012 Oct;19(10):e114-6. doi: 10.1111/j.1468-1331.2012.03812.x. No abstract available.

PMID:
22971232
12.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG.

Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29.

13.

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
14.

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.

Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF.

J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):883-6. doi: 10.1136/jnnp-2012-302568. Epub 2012 May 10.

15.

Mutations in the mitochondrial ATPase6 gene are frequent in human osteosarcoma.

Guo XG, Liu CT, Dai H, Guo QN.

Exp Mol Pathol. 2013 Feb;94(1):285-8. doi: 10.1016/j.yexmp.2012.04.015. Epub 2012 Apr 19.

PMID:
22542792
16.

A novel mitochondrial DNA 8597T>C mutation of Leigh syndrome: report of one case.

Tsai JD, Liu CS, Tsao TF, Sheu JN.

Pediatr Neonatol. 2012 Feb;53(1):60-2. doi: 10.1016/j.pedneo.2011.11.012. Epub 2012 Jan 13.

17.

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.

El-Hafidi M, Meschini MC, Rizza T, Santorelli FM, Bertini E, Carrozzo R, Vázquez-Memije ME.

J Bioenerg Biomembr. 2011 Dec;43(6):683-90. doi: 10.1007/s10863-011-9387-y. Epub 2011 Oct 13.

PMID:
21993659
18.

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Verny C, Guegen N, Desquiret V, Chevrollier A, Prundean A, Dubas F, Cassereau J, Ferre M, Amati-Bonneau P, Bonneau D, Reynier P, Procaccio V.

Mitochondrion. 2011 Jan;11(1):70-5. doi: 10.1016/j.mito.2010.07.006. Epub 2010 Jul 22.

PMID:
20656066
19.

Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C.

Saneto RP, Singh KK.

Mitochondrion. 2010 Aug;10(5):567-72. doi: 10.1016/j.mito.2010.05.006. Epub 2010 May 27.

20.

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.

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