Publications

Found 13 results
Filters: Keyword is Isoenzymes  [Clear All Filters]
2016
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
2014
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M & Ghezzi D (2014) VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat 35, 983-9
2013
Kazak L, Reyes A, He J, Wood SR, Brea-Calvo G, Holen TT & Holt IJ (2013) A cryptic targeting signal creates a mitochondrial FEN1 isoform with tailed R-Loop binding properties. PLoS One 8, e62340
Mifsud J, Ravaud S, Krammer E-M, Chipot C, Kunji ERS, Pebay-Peyroula E & Dehez F (2013) The substrate specificity of the human ADP/ATP carrier AAC1. Mol Membr Biol 30, 160-8
2010
Suzuki Y, J Holmes B, Cerritelli SM, Sakhuja K, Minczuk M, Holt IJ & Crouch RJ (2010) An upstream open reading frame and the context of the two AUG codons affect the abundance of mitochondrial and nuclear RNase H1. Mol Cell Biol 30, 5123-34
2004
Kokoszka JE, Waymire KG, Levy SE, Sligh JE, Cai J, Jones DP, MacGregor GR & Wallace DC (2004) The ADP/ATP translocator is not essential for the mitochondrial permeability transition pore. Nature 427, 461-5
2003
Krause MM, Brand MD, Krauss S, Meisel C, Vergin H, Burmester G-R & Buttgereit F (2003) Nonsteroidal antiinflammatory drugs and a selective cyclooxygenase 2 inhibitor uncouple mitochondria in intact cells. Arthritis Rheum 48, 1438-44
2002
Loktionov A, Moore W, Spencer SP, Vorster H, Nell T, O'Neill IK, Bingham SA & Cummings JH (2002) Differences in N-acetylation genotypes between Caucasians and Black South Africans: implications for cancer prevention. Cancer Detect Prev 26, 15-22
2000
Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L & Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289, 782-5
1998
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW & Scarlato G (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43, 110-6
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
1990
Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F & DiDonato S (1990) Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 40, 495-9
1988
DiMauro S, Zeviani M, Servidei S, Prelle A, Miranda AF, Bonilla E & Schon EA (1988) Biochemical and molecular aspects of cytochrome C oxidase deficiency. Adv Neurol 48, 93-105