Publications

Found 23 results
Filters: Keyword is Protein Biosynthesis  [Clear All Filters]
2018
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Horst HJTer, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk MA, Rodenburg RJ & Van Hove JLK (2018) Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun 9, 4065
2015
Menger KE, James AM, Cochemé HM, Harbour ME, Chouchani ET, Ding S, Fearnley IM, Partridge L & Murphy MP (2015) Fasting, but Not Aging, Dramatically Alters the Redox Status of Cysteine Residues on Proteins in Drosophila melanogaster. Cell Rep 11, 1856-65
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
2014
Johnson MA, Vidoni S, Durigon R, Pearce SF, Rorbach J, He J, Brea-Calvo G, Minczuk M, Reyes A, Holt IJ & Spinazzola A (2014) Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis. PLoS One 9, e93597
Rosa IDalla, Durigon R, Pearce SF, Rorbach J, Hirst EMA, Vidoni S, Reyes A, Brea-Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ & Spinazzola A (2014) MPV17L2 is required for ribosome assembly in mitochondria. Nucleic Acids Res 42, 8500-15
Rorbach J, Boesch P, Gammage PA, Nicholls TJJ, Pearce SF, Patel D, Hauser A, Perocchi F & Minczuk M (2014) MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. Mol Biol Cell 25, 2542-55
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 M & 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
Pearce S, Nezich CLaura & Spinazzola A (2013) Mitochondrial diseases: translation matters. Mol Cell Neurosci 55, 1-12
2012
Rorbach J, Gammage PA & Minczuk M (2012) C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. Nucleic Acids Res 40, 4097-109
He J, Cooper HM, Reyes A, Di Re M, Sembongi H, Litwin TR, Gao J, Neuman KC, Fearnley IM, Spinazzola A, Walker JE & Holt IJ (2012) Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis. Nucleic Acids Res 40, 6109-21
Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L & Zeviani M (2012) Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. Neuromuscul Disord 22, 50-5
2011
Rorbach J, Nicholls TJJ & Minczuk M (2011) PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria. Nucleic Acids Res 39, 7750-63
2009
Mao C-C & Holt IJ (2009) Clinical and molecular aspects of diseases of mitochondrial DNA instability. Chang Gung Med J 32, 354-69
Valente L, Shigi N, Suzuki T & Zeviani M (2009) The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex. Biochim Biophys Acta 1792, 791-5
Tain LS & Whitworth AJ (2009) Translating translation: regulated protein translation as a biomedical intervention. Fly (Austin) 3, 278-80
2007
Spinazzola A & Zeviani M (2007) Disorders of nuclear-mitochondrial intergenomic communication. Biosci Rep 27, 39-51
2004
Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H & Zeviani M (2004) Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J Med Genet 41, 342-9
2000
Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G & Zeviani M (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet 9, 2733-42
1997
Zeviani M & Antozzi C (1997) Mitochondrial disorders. Mol Hum Reprod 3, 133-48
1996
Dunbar DR, Moonie PA, Zeviani M & Holt IJ (1996) Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum Mol Genet 5, 123-29
1986
Herbert J, Wilcox JN, Pham KT, Fremeau RT, Zeviani M, Dwork A, Soprano DR, Makover A, Goodman DS & Zimmerman EA (1986) Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award. Neurology 36, 900-11
1984
Walker JE, Saraste M & Gay NJ (1984) The unc operon. Nucleotide sequence, regulation and structure of ATP-synthase. Biochim Biophys Acta 768, 164-200