Publications

Found 65 results
Filters: Keyword is Muscle, Skeletal  [Clear All Filters]
2017
Bénit P, Pelhaître A, Saunier E, Bortoli S, Coulibaly A, Rak M, Schiff M, Kroemer G, Zeviani M & Rustin P (2017) Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency. EBioMedicine 17, 75-87
2016
Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P & Suomalainen A (2016) FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders. Neurology 87, 2290-2299
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS & Taylor RW (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet 99, 860-876
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 (2016) Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet 98, 1130-45
2014
Pulliam DA, Deepa SS, Liu Y, Hill S, Lin A-L, Bhattacharya A, Shi Y, Sloane L, Viscomi C, Zeviani M & Van Remmen H (2014) Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses. Biochem J 462, 359-71
2013
Deepa SS, Pulliam D, Hill S, Shi Y, Walsh ME, Salmon A, Sloane L, Zhang N, Zeviani M, Viscomi C, Musi N & Van Remmen H (2013) Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity. FASEB J 27, 1371-80
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong L-J, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ & Zeviani M (2013) Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 93, 482-95
Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M & Brunetti-Pierri N (2013) Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med 5, 175ra31
Hildebrandt TM, Di Meo I, Zeviani M, Viscomi C & Braun H-P (2013) Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications. Biosci Rep 33
2012
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M & Fischbeck KH (2012) Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 91, 1095-102
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J & Ghezzi D (2012) A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab 107, 403-8
Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L & Zeviani M (2012) Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. Neuromuscul Disord 22, 50-5
2011
Lodi R, Tonon C, Valentino MLucia, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B & Carelli V (2011) Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol 68, 67-73
Viscomi C, Bottani E, Civiletto G, Cerutti R, Moggio M, Fagiolari G, Schon EA, Lamperti C & Zeviani M (2011) In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis. Cell Metab 14, 80-90
Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F & Poulton J (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J Med Genet 48, 660-8
2010
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P & Chinnery PF (2010) Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133, 771-86
Azzu V, Mookerjee SA & Brand MD (2010) Rapid turnover of mitochondrial uncoupling protein 3. Biochem J 426, 13-7
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G & Zeviani M (2010) Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 86, 639-49
Toime LJ & Brand MD (2010) Uncoupling protein-3 lowers reactive oxygen species production in isolated mitochondria. Free Radic Biol Med 49, 606-11
2009
Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I & Zeviani M (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32, 143-58
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M & Tiranti V (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1787, 491-501
2008
Lambert AJ, Buckingham JA, Boysen HM & Brand MD (2008) Diphenyleneiodonium acutely inhibits reactive oxygen species production by mitochondrial complex I during reverse, but not forward electron transport. Biochim Biophys Acta 1777, 397-403
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
Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O & Zeviani M (2008) FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet 83, 415-23
Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM & Taylor RW (2008) Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 45, 55-61

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