Publications

Found 22 results
Filters: Keyword is NADH Dehydrogenase  [Clear All Filters]
2018
Agip A-NA, Blaza JN, Bridges HR, Viscomi C, Rawson S, Muench SP & Hirst J (2018) Cryo-EM structures of complex I from mouse heart mitochondria in two biochemically defined states. Nat Struct Mol Biol 25, 548-556
2014
Heikal A, Nakatani Y, Dunn E, Weimar MR, Day CL, Baker EN, J Lott S, Sazanov LA & Cook GM (2014) Structure of the bacterial type II NADH dehydrogenase: a monotopic membrane protein with an essential role in energy generation. Mol Microbiol 91, 950-64
2013
Rhein VF, Carroll J, Ding S, Fearnley IM & Walker JE (2013) NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. J Biol Chem 288, 33016-26
2012
Haack TB, Haberberger B, Frisch E-M, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T & Prokisch H (2012) Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet 49, 277-83
Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P & Prokisch H (2012) Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J Med Genet 49, 83-9
2011
Efremov RG & Sazanov LA (2011) Structure of the membrane domain of respiratory complex I. Nature 476, 414-20
2009
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
Bridges HR, Grgic L, Harbour ME & Hirst J (2009) The respiratory complexes I from the mitochondria of two Pichia species. Biochem J 422, 151-9
2007
Hyvärinen AK, Pohjoismäki JLO, Reyes A, Wanrooij S, Yasukawa T, Karhunen PJ, Spelbrink JN, Holt IJ & Jacobs HT (2007) The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA. Nucleic Acids Res 35, 6458-74
Malfatti E, Bugiani M, Invernizzi F, de Souza CFischinger, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MTeresa, Giugliani R, Uziel G & Zeviani M (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 130, 1894-904
Baranova EA, Morgan DJ & Sazanov LA (2007) Single particle analysis confirms distal location of subunits NuoL and NuoM in Escherichia coli complex I. J Struct Biol 159, 238-42
2006
Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M & Papa S (2006) Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. J Biol Chem 281, 10374-80
2005
Reyes A, Yang MYao, Bowmaker M & Holt IJ (2005) Bidirectional replication initiates at sites throughout the mitochondrial genome of birds. J Biol Chem 280, 3242-50
Vogel RO, Janssen RJRJ, Ugalde C, Grovenstein M, Huijbens RJ, Visch H-J, van den Heuvel LP, Willems PH, Zeviani M, Smeitink JAM & Nijtmans LGJ (2005) Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J 272, 5317-26
2004
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G & Zeviani M (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659, 136-47
2003
Holt PJ, Morgan DJ & Sazanov LA (2003) The location of NuoL and NuoM subunits in the membrane domain of the Escherichia coli complex I: implications for the mechanism of proton pumping. J Biol Chem 278, 43114-20
Bowmaker M, Yang MYao, Yasukawa T, Reyes A, Jacobs HT, Huberman JA & Holt IJ (2003) Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. J Biol Chem 278, 50961-9
Taylor ER, Hurrell F, Shannon RJ, Lin T-K, Hirst J & Murphy MP (2003) Reversible glutathionylation of complex I increases mitochondrial superoxide formation. J Biol Chem 278, 19603-10
2002
Yu-Wai-Man P, Brown DT, Wehnert MS, Zeviani M, Carrara F, Turnbull DM & Chinnery PF (2002) NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. Neurology 58, 1861-2
2001
Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M & Papa S (2001) A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. Hum Mol Genet 10, 529-35
Wittig I, Augstein P, Brown GK, Fujii T, Rotig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M & Wehnert MS (2001) Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. J Inherit Metab Dis 24, 15-27
1989
Moraes CT, DiMauro S, Zeviani M, Lombès A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC & Servidei S (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320, 1293-9