Publications

Found 978 results
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2012
Peixeiro I, Inácio Â, Barbosa C, Silva ALuísa, Liebhaber SA & Romão L (2012) Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations. Nucleic Acids Res 40, 1160-73
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W & Prokisch H (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90, 314-20
Steenweg ME, Ghezzi D, Haack T, Abbink TEM, Martinelli D, van Berkel CGM, Bley A, Diogo L, Grillo E, Naudé JTe Water, Strom TM, Bertini E, Prokisch H, van der Knaap MS & Zeviani M (2012) Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain 135, 1387-94
Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R & Zeviani M (2012) MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. Neuromuscul Disord 22, 990-4
Invernizzi F, D'Amato I, Jensen PB, Ravaglia S, Zeviani M & Tiranti V (2012) Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells. Mitochondrion 12, 328-35
Kazak L, Reyes A & Holt IJ (2012) Minimizing the damage: repair pathways keep mitochondrial DNA intact. Nat Rev Mol Cell Biol 13, 659-71
Robinson AJ, Kunji ERS & Gross A (2012) Mitochondrial carrier homolog 2 (MTCH2): the recruitment and evolution of a mitochondrial carrier protein to a critical player in apoptosis. Exp Cell Res 318, 1316-23
Schwarzländer M, Murphy MP, Duchen MR, Logan DC, Fricker MD, Halestrap AP, Müller FL, Rizzuto R, Dick TP, Meyer AJ & Sweetlove LJ (2012) Mitochondrial 'flashes': a radical concept repHined. Trends Cell Biol 22, 503-8
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
James AM, Collins Y, Logan A & Murphy MP (2012) Mitochondrial oxidative stress and the metabolic syndrome. Trends Endocrinol Metab 23, 429-34
Smith RAJ, Hartley RC, Cochemé HM & Murphy MP (2012) Mitochondrial pharmacology. Trends Pharmacol Sci 33, 341-52
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
Murphy MP (2012) Mitochondrial thiols in antioxidant protection and redox signaling: distinct roles for glutathionylation and other thiol modifications. Antioxid Redox Signal 16, 476-95
Smith AC, Blackshaw JA & Robinson AJ (2012) MitoMiner: a data warehouse for mitochondrial proteomics data. Nucleic Acids Res 40, D1160-7
Sanchez-Martinez A, Calleja M, Peralta S, Matsushima Y, Hernandez-Sierra R, Whitworth AJ, Kaguni LS & Garesse R (2012) Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects. PLoS One 7, e43954
Murphy MP (2012) Modulating mitochondrial intracellular location as a redox signal. Sci Signal 5, pe39
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
Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G & Zeviani M (2012) Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. J Inherit Metab Dis 35, 451-8
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
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
Pelletier M, Lepow TS, Billingham LK, Murphy MP & Siegel RM (2012) New tricks from an old dog: mitochondrial redox signaling in cellular inflammation. Semin Immunol 24, 384-92
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
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
Rorbach J & Minczuk M (2012) The post-transcriptional life of mammalian mitochondrial RNA. Biochem J 444, 357-73

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