Publications

Found 20 results
Filters: Keyword is Mutagenesis, Site-Directed  [Clear All Filters]
2018
Joon S, Ragunathan P, Sundararaman L, Nartey W, Kundu S, Manimekalai MSS, Bogdanović N, Dick T & Grüber G (2018) The NMR solution structure of Mycobacterium tuberculosis F-ATP synthase subunit ε provides new insight into energy coupling inside the rotary engine. FEBS J 285, 1111-1128
2016
McCorvie TJ, Kopec J, Pey AL, Fitzpatrick F, Patel D, Chalk R, Shrestha L & Yue WW (2016) Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase. Hum Mol Genet 25, 2234-2244
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
2011
Miniero DV, Cappello AR, Curcio R, Ludovico A, Daddabbo L, Stipani I, Robinson AJ, Kunji ERS & Palmieri F (2011) Functional and structural role of amino acid residues in the matrix alpha-helices, termini and cytosolic loops of the bovine mitochondrial oxoglutarate carrier. Biochim Biophys Acta 1807, 302-10
Bridges HR, Birrell JA & Hirst J (2011) The mitochondrial-encoded subunits of respiratory complex I (NADH:ubiquinone oxidoreductase): identifying residues important in mechanism and disease. Biochem Soc Trans 39, 799-806
2010
Eudes A, Kunji ERS, Noiriel A, Klaus SMJ, Vickers TJ, Beverley SM, Gregory JF & Hanson AD (2010) Identification of transport-critical residues in a folate transporter from the folate-biopterin transporter (FBT) family. J Biol Chem 285, 2867-75
Kunji ERS & Crichton PG (2010) Mitochondrial carriers function as monomers. Biochim Biophys Acta 1797, 817-31
Crichton PG, Albury MS, Affourtit C & Moore AL (2010) Mutagenesis of the Sauromatum guttatum alternative oxidase reveals features important for oxygen binding and catalysis. Biochim Biophys Acta 1797, 732-7
2007
Cappello AR, Miniero DV, Curcio R, Ludovico A, Daddabbo L, Stipani I, Robinson AJ, Kunji ERS & Palmieri F (2007) Functional and structural role of amino acid residues in the odd-numbered transmembrane alpha-helices of the bovine mitochondrial oxoglutarate carrier. J Mol Biol 369, 400-12
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I & Zeviani M (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16, 1241-52
2004
Garavaglia B, Invernizzi F, Carbone MLAgostoni, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G & Nardocci N (2004) GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis 27, 455-63
Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M & Copeland WC (2004) Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol 11, 770-6
2000
Chen K, Hirst J, Camba R, Bonagura CA, Stout CD, Burgess BK & Armstrong FA (2000) Atomically defined mechanism for proton transfer to a buried redox centre in a protein. Nature 405, 814-7
Cabezón E, Butler PJ, Runswick MJ & Walker JE (2000) Modulation of the oligomerization state of the bovine F1-ATPase inhibitor protein, IF1, by pH. J Biol Chem 275, 25460-4
Picon A, Kunji ER, Lanfermeijer FC, Konings WN & Poolman B (2000) Specificity mutants of the binding protein of the oligopeptide transport system of Lactococcus lactis. J Bacteriol 182, 1600-8
1999
Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP & Zeviani M (1999) Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet 8, 2533-40