Publications

Found 38 results
Filters: Keyword is Cytochrome-c Oxidase Deficiency  [Clear All Filters]
2016
Zieliński ŁP, Smith AC, Smith AG & Robinson AJ (2016) Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling. Mitochondrion 31, 45-55
2015
Paupe V, Prudent J, Dassa EP, Rendon OZurita & Shoubridge EA (2015) CCDC90A (MCUR1) is a cytochrome c oxidase assembly factor and not a regulator of the mitochondrial calcium uniporter. Cell Metab 21, 109-16
2014
Melchionda L, Haack TB, Hardy S, Abbink TEM, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D & Zeviani M (2014) Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet 95, 315-25
2012
Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R & Zeviani M (2012) MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. Neuromuscul Disord 22, 990-4
2011
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
2008
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
Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P & Zeviani M (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82, 1281-9
2007
Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V & Zeviani M (2007) Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet 44, 173-80
2005
Bugiani M, Tiranti V, Farina L, Uziel G & Zeviani M (2005) Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet 42, e28
2003
Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V & Zeviani M (2003) Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 12, 399-413
2002
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M & Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 23, 1095-100
Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LDoria, Bado M, Greco M, Zeviani M & Minetti C (2002) A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 17, 233-6
2001
Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M & Marsac C (2001) Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 17, 374-81
1999
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M & Meitinger T (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46, 161-6
Zeviani M, Corona P, Nijtmans L & Tiranti V (1999) Nuclear gene defects in mitochondrial disorders. Ital J Neurol Sci 20, 401-8
1998
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T & Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63, 1609-21
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P & Zeviani M (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol 43, 98-101
1996
Caruso U, Adami A, Bertini E, Burlina AB, Carnevale F, Cerone R, Dionisi-Vici C, Giordano G, Leuzzi E, Parenti G, Savasta S, Uziel G & Zeviani M (1996) Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients. J Inherit Metab Dis 19, 143-8
1995
Tiranti V, Munaro M, Sandonà D, Lamantea E, Rimoldi M, DiDonato S, Bisson R & Zeviani M (1995) Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. Hum Mol Genet 4, 2017-23
1994
Prelle A, Fagiolari G, Checcarelli N, Moggio M, Battistel A, Comi GP, Bazzi P, Bordoni A, Zeviani M & Scarlato G (1994) Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level. Acta Neuropathol 87, 371-6
1992
Fabrizi GM, Sadlock J, Hirano M, Mita S, Koga Y, Rizzuto R, Zeviani M & Schon EA (1992) Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. Gene 119, 307-12
1989
DiMauro S, Zeviani M, Moraes CT, Nakase H, Rizzuto R, Lombès A, Shanske S & Schon EA (1989) Mitochondrial encephalomyopathies. Prog Clin Biol Res 306, 117-28
Lombès A, Mendell JR, Nakase H, Barohn RJ, Bonilla E, Zeviani M, Yates AJ, Omerza J, Gales TL & Nakahara K (1989) Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann Neurol 26, 20-33

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