Publications

Found 209 results
Filters: Keyword is Molecular Sequence Data  [Clear All Filters]
2012
Herzig S, Raemy E, Montessuit S, Veuthey J-L, Zamboni N, Westermann B, Kunji ERS & Martinou J-C (2012) Identification and functional expression of the mitochondrial pyruvate carrier. Science 337, 93-6
Bricker DK, Taylor EB, Schell JC, Orsak T, Boutron A, Chen Y-C, Cox JE, Cardon CM, Van Vranken JG, Dephoure N, Redin C, Boudina S, Gygi SP, Brivet M, Thummel CS & Rutter J (2012) A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. Science 337, 96-100
Indrieri A, van Rahden VAlexandra, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M & Franco B (2012) Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet 91, 942-9
Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I & Zeviani M (2012) Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am J Hum Genet 90, 1079-87
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J & Ghezzi D (2012) A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab 107, 403-8
Achilli A, Iommarini L, Olivieri A, Pala M, Kashani BHooshiar, Reynier P, La Morgia C, Valentino MLucia, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AMaria, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A & Carelli V (2012) Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One 7, e42242
2011
Stael S, Rocha AG, Robinson AJ, Kmiecik P, Vothknecht UC & Teige M (2011) Arabidopsis calcium-binding mitochondrial carrier proteins as potential facilitators of mitochondrial ATP-import and plastid SAM-import. FEBS Lett 585, 3935-40
Woodroof HI, Pogson JH, Begley M, Cantley LC, Deak M, Campbell DG, van Aalten DMF, Whitworth AJ, Alessi DR & Muqit MMK (2011) Discovery of catalytically active orthologues of the Parkinson's disease kinase PINK1: analysis of substrate specificity and impact of mutations. Open Biol 1, 110012
Yang L, Vaitheesvaran B, Hartil K, Robinson AJ, Hoopmann MR, Eng JK, Kurland IJ & Bruce JE (2011) The fasted/fed mouse metabolic acetylome: N6-acetylation differences suggest acetylation coordinates organ-specific fuel switching. J Proteome Res 10, 4134-49
Deas E, Plun-Favreau H, Gandhi S, Desmond H, Kjaer S, H Y Loh S, Renton AEM, Harvey RJ, Whitworth AJ, L Martins M, Abramov AY & Wood NW (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet 20, 867-79
Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M & Lodi T (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11, 182-90
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, 660-668
2010
Watt IN, Montgomery MG, Runswick MJ, Leslie AGW & Walker JE (2010) Bioenergetic cost of making an adenosine triphosphate molecule in animal mitochondria. Proc Natl Acad Sci U S A 107, 16823-7
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes H-W, Wittig I, Meitinger T, Zeviani M & Prokisch H (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42, 1131-4
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
Narendra D, Kane LA, Hauser DN, Fearnley IM & Youle RJ (2010) p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both. Autophagy 6, 1090-106
Zhou A, Carrell RW, Murphy MP, Wei Z, Yan Y, Stanley PLD, Stein PE, Pipkin FBroughton & Read RJ (2010) A redox switch in angiotensinogen modulates angiotensin release. Nature 468, 108-11
Bridges HR, Fearnley IM & Hirst J (2010) The subunit composition of mitochondrial NADH:ubiquinone oxidoreductase (complex I) from Pichia pastoris. Mol Cell Proteomics 9, 2318-26
Birrell JA & Hirst J (2010) Truncation of subunit ND2 disrupts the threefold symmetry of the antiporter-like subunits in complex I from higher metazoans. FEBS Lett 584, 4247-52
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
2009
Kabaleeswaran V, Shen H, Symersky J, Walker JE, Leslie AGW & Mueller DM (2009) Asymmetric structure of the yeast F1 ATPase in the absence of bound nucleotides. J Biol Chem 284, 10546-51
Matthies D, Preiss L, Klyszejko AL, Müller DJ, Cook GM, Vonck J & Meier T (2009) The c13 ring from a thermoalkaliphilic ATP synthase reveals an extended diameter due to a special structural region. J Mol Biol 388, 611-8
Malena A, Loro E, Di Re M, Holt IJ & Vergani L (2009) Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA. Hum Mol Genet 18, 3407-16
Da Pozzo P, Cardaioli E, Malfatti E, Gallus GNicola, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M & Federico A (2009) A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur J Hum Genet 17, 1092-6
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

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