Publications

Found 228 results
Filters: Keyword is Mutation  [Clear All Filters]
2002
Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L & Nardocci N (2002) Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov Disord 17, 407-8
James AM & Murphy MP (2002) How mitochondrial damage affects cell function. J Biomed Sci 9, 475-87
Minczuk M, Piwowarski J, Papworth MA, Awiszus K, Schalinski S, Dziembowski A, Dmochowska A, Bartnik E, Tokatlidis K, Stepien PP & Borowski P (2002) Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA. Nucleic Acids Res 30, 5074-86
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M & Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 23, 1095-100
Savoiardo M, Zeviani M, Uziel G & Farina L (2002) MRI in Leigh syndrome with SURF1 gene mutation. Ann Neurol 51, 138-9
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel L-P, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A & Monaco AP (2002) Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet 10, 773-81
2001
Zeviani M (2001) The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 12, 407-16
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M & Larsson C (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28, 223-31
Nijtmans LG, Henderson NS, Attardi G & Holt IJ (2001) Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. J Biol Chem 276, 6755-62
Hutchin TP, Navarro-Coy NC, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V & Mueller RF (2001) Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. Eur J Hum Genet 9, 385-7
Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M & Marsac C (2001) Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat 17, 374-81
Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M & Marsac C (2001) New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem 276, 15326-9
Corona P, Antozzi C, Carrara F, D'Incerti L, Lamantea E, Tiranti V & Zeviani M (2001) A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 49, 106-10
Gellera C, Castellotti B, Riggio MC, Silani V, Morandi L, Testa D, Casali C, Taroni F, Di Donato S, Zeviani M & Mariotti C (2001) Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord 11, 404-10
2000
Polevoda B, Martzen MR, Das B, Phizicky EM & Sherman F (2000) Cytochrome c methyltransferase, Ctm1p, of yeast. J Biol Chem 275, 20508-13
Lehtinen SK, Hance N, A Meziane E, Juhola MK, Juhola KM, Karhu R, Spelbrink JN, Holt IJ & Jacobs HT (2000) Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA. Genetics 154, 363-80
Jones PC, Hermolin J & Fillingame RH (2000) Mutations in single hairpin units of genetically fused subunit c provide support for a rotary catalytic mechanism in F(0)F(1) ATP synthase. J Biol Chem 275, 11355-60
Picon A, Kunji ERS, Lanfermeijer FC, Konings WN & Poolman B (2000) Specificity mutants of the binding protein of the oligopeptide transport system of Lactococcus lactis. J Bacteriol 182, 1600-8
Zerella R, Chen PY, Evans PA, Raine A & Williams DH (2000) Structural characterization of a mutant peptide derived from ubiquitin: implications for protein folding. Protein Sci 9, 2142-50
1999
Tiranti V, Galimberti C, Nijtmans L, Bovolenta S, Perini MP & Zeviani M (1999) Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet 8, 2533-40
Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ & Van Camp G (1999) Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur J Hum Genet 7, 45-51
Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M & Fried M (1999) Leigh syndrome transmitted by uniparental disomy of chromosome 9. J Med Genet 36, 927-8
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi GP, Uziel G, Zeviani M & Meitinger T (1999) Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 46, 161-6
Toompuu M, Tiranti V, Zeviani M & Jacobs HT (1999) Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum Mol Genet 8, 2275-83
Zeviani M, Corona P, Nijtmans L & Tiranti V (1999) Nuclear gene defects in mitochondrial disorders. Ital J Neurol Sci 20, 401-8

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