Publications

Found 8 results
Filters: Keyword is Malonates  [Clear All Filters]
2019
Kohlhauer M, Pell VR, Burger N, Spiroski AM, Gruszczyk A, Mulvey JF, Mottahedin A, Costa ASH, Frezza C, Ghaleh B, Murphy MP, Tissier R & Krieg T (2019) Protection against cardiac ischemia-reperfusion injury by hypothermia and by inhibition of succinate accumulation and oxidation is additive. Basic Res Cardiol 114, 18
2016
Mills EL, Kelly B, Logan A, Costa ASH, Varma M, Bryant CE, Tourlomousis P, J Däbritz HM, Gottlieb E, Latorre I, Corr SC, McManus G, Ryan D, Jacobs HT, Szibor M, Xavier RJ, Braun T, Frezza C, Murphy MP & O'Neill LA (2016) Succinate Dehydrogenase Supports Metabolic Repurposing of Mitochondria to Drive Inflammatory Macrophages. Cell 167, 457-470.e13
2010
Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V & Zeviani M (2010) Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med 16, 869-71
2009
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M & Zeviani M (2009) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 15, 200-5
2008
Parker N, Affourtit C, Vidal-Puig A & Brand MD (2008) Energization-dependent endogenous activation of proton conductance in skeletal muscle mitochondria. Biochem J 412, 131-9
Okuyaz C, Ezgü FSüheyl, Biberoglu G, Zeviani M, Tiranti V & Yilgör E (2008) Severe infantile hypotonia with ethylmalonic aciduria: case report. J Child Neurol 23, 703-5
2006
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A & Zeviani M (2006) ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet 43, 340-6
2004
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva M-T, Vollmer B, Rinaldo P, Hahn SHoun, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P & Zeviani M (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74, 239-52