Publications

Found 199 results
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2015
Walpole TB, Palmer DN, Jiang H, Ding S, Fearnley IM & Walker JE (2015) Conservation of complete trimethylation of lysine-43 in the rotor ring of c-subunits of metazoan adenosine triphosphate (ATP) synthases. Mol Cell Proteomics 14, 828-40
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H & Ghezzi D (2015) COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet 96, 309-17
Lee J, Ding S, Walpole TB, Holding AN, Montgomery MG, Fearnley IM & Walker JE (2015) Organization of Subunits in the Membrane Domain of the Bovine F-ATPase Revealed by Covalent Cross-linking. J Biol Chem 290, 13308-20
Liu S, Charlesworth TJ, Bason JV, Montgomery MG, Harbour ME, Fearnley IM & Walker JE (2015) The purification and characterization of ATP synthase complexes from the mitochondria of four fungal species. Biochem J 468, 167-75
Morales-Rios E, Montgomery MG, Leslie AGW & Walker JE (2015) Structure of ATP synthase from Paracoccus denitrificans determined by X-ray crystallography at 4.0 Å resolution. Proc Natl Acad Sci U S A 112, 13231-6
2014
Suomi F, Menger KE, Monteuuis G, Naumann U, Kursu VASamuli, Shvetsova A & Kastaniotis AJ (2014) Expression and evolution of the non-canonically translated yeast mitochondrial acetyl-CoA carboxylase Hfa1p. PLoS One 9, e114738
Da-Rè C, Franzolin E, Biscontin A, Piazzesi A, Pacchioni B, Gagliani MCristina, Mazzotta G, Tacchetti C, Zordan MA, Zeviani M, Bernardi P, Bianchi V, De Pittà C & Costa R (2014) Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporter. J Biol Chem 289, 7448-59
Rhein VF, Carroll J, He J, Ding S, Fearnley IM & Walker JE (2014) Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria. J Biol Chem 289, 24640-51
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, de Camaret BMousson, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk MA & Prokisch H (2014) Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet 95, 708-20
2013
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk MA & Holt IJ (2013) Alternative translation initiation augments the human mitochondrial proteome. Nucleic Acids Res 41, 2354-69
Prudent J, Popgeorgiev N, Bonneau B, Thibaut J, Gadet R, Lopez J, Gonzalo P, Rimokh R, Manon S, Houart C, Herbomel P, Aouacheria A & Gillet G (2013) Bcl-wav and the mitochondrial calcium uniporter drive gastrula morphogenesis in zebrafish. Nat Commun 4, 2330
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk MA, Mayr JA & Prokisch H (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 93, 211-23
Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C & Zeviani M (2013) A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat 34, 1619-22
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli J-P, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JPH, Crowne E, Barford D, Wareham NJ, O'Rahilly S, Murphy MP, Powell DR, Barroso I & I Farooqi S (2013) KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell 155, 765-77
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk MA, Kunz WS & Prokisch H (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 45, 214-9
Sánchez E, Lobo T, Fox JL, Zeviani M, Winge DR & Fernandez-Vizarra E (2013) LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells. Biochim Biophys Acta 1827, 285-93
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M & Ghezzi D (2013) MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum Mutat 34, 1501-9
Narendra DP, Wang C, Youle RJ & Walker JE (2013) PINK1 rendered temperature sensitive by disease-associated and engineered mutations. Hum Mol Genet 22, 2572-89
García-Gómez S, Reyes A, Martínez-Jiménez MI, E Chocrón S, Mourón S, Terrados G, Powell C, Salido E, Méndez J, Holt IJ & Blanco L (2013) PrimPol, an archaic primase/polymerase operating in human cells. Mol Cell 52, 541-53
Shintre CA, Pike ACW, Li Q, Kim J-I, Barr AJ, Goubin S, Shrestha L, Yang J, Berridge G, Ross J, Stansfeld PJ, Sansom MSP, Edwards AM, Bountra C, Marsden BD, von Delft F, Bullock AN, Gileadi O, Burgess-Brown NA & Carpenter EP (2013) Structures of ABCB10, a human ATP-binding cassette transporter in apo- and nucleotide-bound states. Proc Natl Acad Sci U S A 110, 9710-5
2012
Rorbach J, Gammage PA & Minczuk MA (2012) C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. Nucleic Acids Res 40, 4097-109
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

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