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Year | Number of Results |
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2010 | 2 |
2011 | 2 |
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ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
Biomed Res Int. 2015;2015:462592. doi: 10.1155/2015/462592. Epub 2015 Oct 13.
Biomed Res Int. 2015.
PMID: 26550569
Free PMC article.
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH.
Cameron JM, et al.
Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30.
Mitochondrion. 2011.
PMID: 20920610
Item in Clipboard
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S.
Cízková A, et al.
Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26.
Nat Genet. 2008.
PMID: 18953340
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Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
Havlíčková Karbanová V, Cížková Vrbacká A, Hejzlarová K, Nůsková H, Stránecký V, Potocká A, Kmoch S, Houštěk J.
Havlíčková Karbanová V, et al.
Biochim Biophys Acta. 2012 Jul;1817(7):1037-43. doi: 10.1016/j.bbabio.2012.03.004. Epub 2012 Mar 10.
Biochim Biophys Acta. 2012.
PMID: 22433607
Free article.
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Expression and processing of the TMEM70 protein.
Hejzlarová K, Tesařová M, Vrbacká-Čížková A, Vrbacký M, Hartmannová H, Kaplanová V, Nosková L, Kratochvílová H, Buzková J, Havlíčková V, Zeman J, Kmoch S, Houštěk J.
Hejzlarová K, et al.
Biochim Biophys Acta. 2011 Jan;1807(1):144-9. doi: 10.1016/j.bbabio.2010.10.005. Epub 2010 Oct 16.
Biochim Biophys Acta. 2011.
PMID: 20937241
Free article.
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TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
Torraco A, Verrigni D, Rizza T, Meschini MC, Vazquez-Memije ME, Martinelli D, Bianchi M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R.
Torraco A, et al.
Neurogenetics. 2012 Nov;13(4):375-86. doi: 10.1007/s10048-012-0343-8. Epub 2012 Sep 18.
Neurogenetics. 2012.
PMID: 22986587
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