Publications

Found 221 results
Filters: Keyword is Mutation  [Clear All Filters]
2013
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong L-J, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ & Zeviani M (2013) Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 93, 482-95
Burchell VS, Nelson DE, Sanchez-Martinez A, Delgado-Camprubi M, Ivatt RM, Pogson JH, Randle SJ, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Whitworth AJ, Laman H & Plun-Favreau H (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci 16, 1257-65
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2013) Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology 80, 2049-54
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
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
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M & de Camaret BMousson (2013) SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology 81, 1523-30
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
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M & Fischbeck KH (2012) Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 91, 1095-102
Gay LJ, Mitrou PN, Keen J, Bowman R, Naguib A, Cooke J, Kuhnle GG, Burns PA, Luben R, Lentjes M, Khaw K-T, Ball RY, Ibrahim AEk & Arends MJ (2012) Dietary, lifestyle and clinicopathological factors associated with APC mutations and promoter methylation in colorectal cancers from the EPIC-Norfolk study. J Pathol 228, 405-15
Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M & Siciliano G (2012) Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. Neuromuscul Disord 22 Suppl 3, S226-9
AlSaman A, Tomoum H, Invernizzi F & Zeviani M (2012) Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. Saudi J Gastroenterol 18, 285-9
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
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
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
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
Achilli A, Iommarini L, Olivieri A, Pala M, Kashani BHooshiar, Reynier P, La Morgia C, Valentino MLucia, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AMaria, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A & Carelli V (2012) Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One 7, e42242
Pelayo-Negro AL, Sánchez-Quintana C, Rodríguez-Oroz MC, Volpini V, Zeviani M, Tola-Arribas MA, Berciano J & Infante J (2012) Screening for POLG W748S and A467T mutations in ataxia patients from Spain. Mov Disord 27, 1326
2011
Lodi R, Tonon C, Valentino MLucia, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B & Carelli V (2011) Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol 68, 67-73
Whitworth AJ (2011) Drosophila models of Parkinson's disease. Adv Genet 73, 1-50
Moreno-Loshuertos R, Ferrín G, Acín-Pérez R, M Gallardo E, Viscomi C, Pérez-Martos A, Zeviani M, Fernández-Silva P & Enríquez JAntonio (2011) Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations. PLoS Genet 7, e1001379
Salsano E, Giovagnoli ARita, Morandi L, Maccagnano C, Lamantea E, Marchesi C, Zeviani M & Pareyson D (2011) Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. J Neurol Sci 300, 165-8
Spinazzola A (2011) Mitochondrial DNA mutations and depletion in pediatric medicine. Semin Fetal Neonatal Med 16, 190-6

Pages