Publications

Found 263 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
2002
Chinnery PF, Samuels DC, Elson J & Turnbull DM (2002) Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?. Lancet 360, 1323-5
Yang MYao, Bowmaker M, Reyes A, Vergani L, Angeli P, Gringeri E, Jacobs HT & Holt IJ (2002) Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell 111, 495-505
Carelli V, Baracca A, Barogi S, Pallotti F, Valentino MLucia, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A & Solaini G (2002) Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 59, 264-70
James AM & Murphy MP (2002) How mitochondrial damage affects cell function. J Biomed Sci 9, 475-87
Corona P, Lamantea E, Greco M, Carrara F, Agostino A, Guidetti D, Dotti MT, Mariotti C & Zeviani M (2002) Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol 51, 118-22
Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V & Zeviani M (2002) A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 12, 49-52
2001
Taylor RW, Wardell TM, Smith PM, Muratovska A, Murphy MP, Turnbull DM & Lightowlers RN (2001) An antigenomic strategy for treating heteroplasmic mtDNA disorders. Adv Drug Deliv Rev 49, 121-5
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
Zeviani M & Klopstock T (2001) Mitochondrial disorders. Curr Opin Neurol 14, 553-60
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
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
Kajander OA, Karhunen PJ, Holt IJ & Jacobs HT (2001) Prominent mitochondrial DNA recombination intermediates in human heart muscle. EMBO Rep 2, 1007-12
Muratovska A, Lightowlers RN, Taylor RW, Turnbull DM, Smith RA, Wilce JA, Martin SW & Murphy MP (2001) Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease. Nucleic Acids Res 29, 1852-63
2000
Holt IJ, Lorimer HE & Jacobs HT (2000) Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA. Cell 100, 515-24
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
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
Uziel G, Carrara F, Granata T, Lamantea E, Mora M & Zeviani M (2000) Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case. Neuromuscul Disord 10, 415-8
Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G & Zeviani M (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet 9, 2733-42
Jacobs HT & Holt IJ (2000) The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't. Hum Mol Genet 9, 463-5
Vergani L, Prescott AR & Holt IJ (2000) Rhabdomyosarcoma rho(0) cells: isolation and characterization of a mitochondrial DNA depleted cell line with 'muscle-like' properties. Neuromuscul Disord 10, 454-9
Kaukonen J, Juselius JK, Tiranti V, Kyttälä A, Zeviani M, Comi GP, Keränen S, Peltonen L & Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289, 782-5
Carta A, D'Adda T, Carrara F & Zeviani M (2000) Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. Arch Ophthalmol 118, 1441-5
1999
Rovio A, Tiranti V, Bednarz AL, Suomalainen A, Spelbrink JN, Lecrenier N, Melberg A, Zeviani M, Poulton J, Foury F & Jacobs HT (1999) Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals. Eur J Hum Genet 7, 140-6

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