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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: emmanuele v. 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.
Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.
Kubota A, Juanola-Falgarona M, Emmanuele V, Sanchez-Quintero MJ, Kariya S, Sera F, Homma S, Tanji K, Quinzii CM, Hirano M. Kubota A, et al. Among authors: emmanuele v. Hum Mol Genet. 2019 Jan 15;28(2):209-219. doi: 10.1093/hmg/ddy299. Hum Mol Genet. 2019. PMID: 30260394 Free PMC article.
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Garcia-Diaz B, et al. Among authors: emmanuele v. Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022099 Free PMC article.
Advances in primary mitochondrial myopathies.
de Barcelos IP, Emmanuele V, Hirano M. de Barcelos IP, et al. Among authors: emmanuele v. Curr Opin Neurol. 2019 Oct;32(5):715-721. doi: 10.1097/WCO.0000000000000743. Curr Opin Neurol. 2019. PMID: 31408013 Free PMC article. Review.
Emerging therapies for mitochondrial diseases.
Hirano M, Emmanuele V, Quinzii CM. Hirano M, et al. Among authors: emmanuele v. Essays Biochem. 2018 Jul 20;62(3):467-481. doi: 10.1042/EBC20170114. Print 2018 Jul 20. Essays Biochem. 2018. PMID: 29980632 Free PMC article. Review.
42 results