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Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
Tolomeo M, Chimienti G, Lanza M, Barbaro R, Nisco A, Latronico T, Leone P, Petrosillo G, Liuzzi GM, Ryder B, Inbar-Feigenberg M, Colella M, Lezza AMS, Olsen RKJ, Barile M. Tolomeo M, et al. Among authors: olsen rkj. Free Radic Res. 2022 Jul-Aug;56(7-8):511-525. doi: 10.1080/10715762.2022.2146501. Epub 2022 Dec 8. Free Radic Res. 2022. PMID: 36480241
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. 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.
Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency.
Lund M, Andersen KG, Heaton R, Hargreaves IP, Gregersen N, Olsen RKJ. Lund M, et al. Among authors: olsen rkj. Biochim Biophys Acta Mol Basis Dis. 2021 Jun 1;1867(6):166100. doi: 10.1016/j.bbadis.2021.166100. Epub 2021 Feb 5. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33549744 Free article.
49 results