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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Among authors: barile m. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006. Am J Hum Genet. 2016. PMID: 27259049 Free PMC article.
Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient.
Gianazza E, Vergani L, Wait R, Brizio C, Brambilla D, Begum S, Giancaspero TA, Conserva F, Eberini I, Bufano D, Angelini C, Pegoraro E, Tramontano A, Barile M. Gianazza E, et al. Among authors: barile m. Electrophoresis. 2006 Mar;27(5-6):1182-98. doi: 10.1002/elps.200500687. Electrophoresis. 2006. PMID: 16470778
Mitochondrial localization of human FAD synthetase isoform 1.
Torchetti EM, Brizio C, Colella M, Galluccio M, Giancaspero TA, Indiveri C, Roberti M, Barile M. Torchetti EM, et al. Among authors: barile m. Mitochondrion. 2010 Apr;10(3):263-73. doi: 10.1016/j.mito.2009.12.149. Epub 2010 Jan 7. Mitochondrion. 2010. PMID: 20060505
328 results