Publications

Found 101 results
Filters: Keyword is Mitochondrial Diseases  [Clear All Filters]
2019
Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M & Hudson G (2019) Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Mitochondrion 46, 302-306
2018
Lovero D, Giordano L, Marsano RMassimilia, Sanchez-Martinez A, Boukhatmi H, Drechsler M, Oliva M, Whitworth AJ, Porcelli D & Caggese C (2018) Characterization of Drosophila ATPsynC mutants as a new model of mitochondrial ATP synthase disorders. PLoS One 13, e0201811
Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K & Chinnery PF (2018) Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. Brain 141, 55-62
Ghezzi D & Zeviani M (2018) Human diseases associated with defects in assembly of OXPHOS complexes. Essays Biochem 62, 271-286
Leslie M (2018) 'Old' genome editors might treat mitochondrial diseases. Science 361, 1302
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
Garone C & Viscomi C (2018) Towards a therapy for mitochondrial disease: an update. Biochem Soc Trans 46, 1247-1261
2017
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk MA & Prokisch H (2017) Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet 101, 525-538
Karaa A, Rahman S, Lombes A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC & Goldstein A (2017) Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. J Inherit Metab Dis 40, 403-414
Steele HE, Horvath R, Lyon JJ & Chinnery PF (2017) Monitoring clinical progression with mitochondrial disease biomarkers. Brain 140, 2530-2540
2016
Martikainen MH, Ng YShiau, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R & Turnbull DM (2016) Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol 73, 668-74
Lehtonen JM, Forsström S, Bottani E, Viscomi C, Baris OR, Isoniemi H, Höckerstedt K, Österlund P, Hurme M, Jylhävä J, Leppä S, Markkula R, Heliö T, Mombelli G, Uusimaa J, Laaksonen R, Laaksovirta H, Auranen M, Zeviani M, Smeitink J, Wiesner RJ, Nakada K, Isohanni P & Suomalainen A (2016) FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders. Neurology 87, 2290-2299
Vrbacký M, Kovalčíková J, Chawengsaksophak K, Beck IM, Mráček T, Nůsková H, Sedmera D, Papoušek F, Kolář F, Sobol M, Hozák P, Sedlacek R & Houštěk J (2016) Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. Hum Mol Genet 25, 4674-4685
Chinnery PF & Zeviani M (2016) Mitochondrial Matchmaking. N Engl J Med 375, 1894-1896
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS & Taylor RW (2016) Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet 99, 860-876
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M & Prokisch H (2016) Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet 98, 1130-45
2015
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
Viscomi C, Bottani E & Zeviani M (2015) Emerging concepts in the therapy of mitochondrial disease. Biochim Biophys Acta 1847, 544-57
Ghezzi D, Canavese C, Kovacevic G, Zamurovic D, Barzaghi C, Giorgi C, Zorzi G, Zeviani M, Pinton P, Garavaglia B & Nardocci N (2015) A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. Eur J Paediatr Neurol 19, 64-8
Van Haute L, Pearce SF, Powell CA, D'Souza AR, Nicholls TJ & Minczuk M (2015) Mitochondrial transcript maturation and its disorders. J Inherit Metab Dis 38, 655-80
Civiletto G, Varanita T, Cerutti R, Gorletta T, Barbaro S, Marchet S, Lamperti C, Viscomi C, Scorrano L & Zeviani M (2015) Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. Cell Metab 21, 845-54
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati MAlice, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FMaria, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco ECaldarazzo, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2015) Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 262, 1301-9
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H & Minczuk M (2015) TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. Am J Hum Genet 97, 319-28
2014
Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS & Minczuk M (2014) Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Hum Mol Genet 23, 6147-62
Gammage PA, Rorbach J, Vincent AI, Rebar EJ & Minczuk M (2014) Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations. EMBO Mol Med 6, 458-66

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