Publications
2013
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 M, Kunz WS & Prokisch H (2013)
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 45, 214-9
2008
Cízková A, Stránecký V, Mayr JA, Tesarova M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansikova H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houštěk J & Kmoch S (2008)
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40, 1288-90
2006
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RMassimilia, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V & Zeviani M (2006)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38, 570-5
2005
Klaus SMJ, Kunji ERS, Bozzo GG, Noiriel A, de la Garza RDíaz, Basset GJC, Ravanel S, Rébeillé F, Gregory JF & Hanson AD (2005)
Higher plant plastids and cyanobacteria have folate carriers related to those of trypanosomatids. J Biol Chem 280, 38457-63
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, Morrow JD, Van Remmen H, Sedivy JM, Yamasoba T, Tanokura M, Weindruch R, Leeuwenburgh C & Prolla TA (2005)
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309, 481-4
2003
Meirhaeghe A, Crowley V, Lenaghan C, Lelliott C, Green K, Stewart A, Hart K, Schinner S, Sethi JK, Yeo G, Brand MD, Cortright RN, O'Rahilly S, Montague C & Vidal-Puig AJ (2003)
Characterization of the human, mouse and rat PGC1 beta (peroxisome-proliferator-activated receptor-gamma co-activator 1 beta) gene in vitro and in vivo. Biochem J 373, 155-65
Piwowarski J, Grzechnik P, Dziembowski A, Dmochowska A, Minczuk M & Stepien PP (2003)
Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria. J Mol Biol 329, 853-7
Greene JC, Whitworth AJ, Kuo I, Andrews LA, Feany MB & Pallanck LJ (2003)
Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants. Proc Natl Acad Sci U S A 100, 4078-83
2000
Kajander OA, Rovio AT, Majamaa K, Poulton J, Spelbrink JN, Holt IJ, Karhunen PJ & Jacobs HT (2000)
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states. Hum Mol Genet 9, 2821-35
Palmieri L, Lasorsa FM, Vozza A, Agrimi G, Fiermonte G, Runswick MJ, Walker JE & Palmieri F (2000)
Identification and functions of new transporters in yeast mitochondria. Biochim Biophys Acta 1459, 363-9
1998
Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R & Zeviani M (1998)
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54, 494-504
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B & Ballabio A (1998)
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-83
1997
Mierau I, Kunji ERS, Venema G & Kok J (1997)
Casein and peptide degradation in lactic acid bacteria. Biotechnol Genet Eng Rev 14, 279-301
Prats E, Noël M, Létourneau J, Tiranti V, Vaqué J, Debón R, Zeviani M, Cornudella L & Ruiz-Carrillo A (1997)
Characterization and expression of the mouse endonuclease G gene. DNA Cell Biol 16, 1111-22
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