Publications

Found 14 results
Filters: Keyword is Protein Isoforms  [Clear All Filters]
2015
Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M & Van Coster R (2015) Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat 36, 222-31
2013
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk M & Holt IJ (2013) Alternative translation initiation augments the human mitochondrial proteome. Nucleic Acids Res 41, 2354-69
2012
Monné M, Miniero DValeria, Daddabbo L, Robinson AJ, Kunji ERS & Palmieri F (2012) Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site. J Biol Chem 287, 7925-34
2011
Pogson JH, Ivatt RM & Whitworth AJ (2011) Molecular mechanisms of PINK1-related neurodegeneration. Curr Neurol Neurosci Rep 11, 283-90
2009
Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D & Zeviani M (2009) Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 18, 1058-64
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
Brand MD & Esteves TC (2005) Physiological functions of the mitochondrial uncoupling proteins UCP2 and UCP3. Cell Metab 2, 85-93
2004
Fiermonte G, De Leonardis F, Todisco S, Palmieri L, Lasorsa FMassimo & Palmieri F (2004) Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution. J Biol Chem 279, 30722-30
2003
Meirhaeghe A, Crowley V, Lenaghan C, Lelliott C, Green K, Stewart A, Hart K, Schinner S, Sethi JK, Yeo G, Brand MD, Cortright RN, O'Rahilly S, Montague C & Vidal-Puig AJ (2003) Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo. Biochem J 373, 155-65
Cavero S, Vozza A, del Arco A, Palmieri L, Villa A, Blanco E, Runswick MJ, Walker JE, Cerdán S, Palmieri F & Satrústegui J (2003) Identification and metabolic role of the mitochondrial aspartate-glutamate transporter in Saccharomyces cerevisiae. Mol Microbiol 50, 1257-69
Fiermonte G, Dolce V, David L, Santorelli FMaria, Dionisi-Vici C, Palmieri F & Walker JE (2003) The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem 278, 32778-83
2001
Palmieri L, Agrimi G, Runswick MJ, Fearnley IM, Palmieri F & Walker JE (2001) Identification in Saccharomyces cerevisiae of two isoforms of a novel mitochondrial transporter for 2-oxoadipate and 2-oxoglutarate. J Biol Chem 276, 1916-22
2000
Cadenas S, Buckingham JA, St-Pierre J, Dickinson K, Jones RB & Brand MD (2000) AMP decreases the efficiency of skeletal-muscle mitochondria. Biochem J 351 Pt 2, 307-11