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Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.
Lopez-Gomez C, Levy RJ, Sanchez-Quintero MJ, Juanola-Falgarona M, Barca E, Garcia-Diaz B, Tadesse S, Garone C, Hirano M. Lopez-Gomez C, et al. Among authors: barca e. Ann Neurol. 2017 May;81(5):641-652. doi: 10.1002/ana.24922. Epub 2017 May 4. Ann Neurol. 2017. PMID: 28318037 Free PMC article.
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. Among authors: barca e. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. Balreira A, et al. Among authors: barca e. J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3. J Neurol. 2014. PMID: 25182700 Free PMC article.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. Barca E, et al. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231. Hum Mol Genet. 2018. PMID: 29917077 Free PMC article.
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.
Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM. Ziosi M, et al. Among authors: barca e. EMBO Mol Med. 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356. EMBO Mol Med. 2017. PMID: 27856618 Free PMC article.
Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum.
Barca E, Kleiner G, Tang G, Ziosi M, Tadesse S, Masliah E, Louis ED, Faust P, Kang UJ, Torres J, Cortes EP, Vonsattel JP, Kuo SH, Quinzii CM. Barca E, et al. J Neuropathol Exp Neurol. 2016 Jul;75(7):663-72. doi: 10.1093/jnen/nlw037. Epub 2016 May 27. J Neuropathol Exp Neurol. 2016. PMID: 27235405 Free PMC article.
CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway.
Kleiner G, Barca E, Ziosi M, Emmanuele V, Xu Y, Hidalgo-Gutierrez A, Qiao C, Tadesse S, Area-Gomez E, Lopez LC, Quinzii CM. Kleiner G, et al. Among authors: barca e. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3708-3722. doi: 10.1016/j.bbadis.2018.09.002. Epub 2018 Sep 6. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30251690 Free PMC article.
66 results