Publications

Found 36 results
Filters: Keyword is Polymerase Chain Reaction  [Clear All Filters]
2015
Booty LM, King MS, Thangaratnarajah C, Majd H, James AM, Kunji ERS & Murphy MP (2015) The mitochondrial dicarboxylate and 2-oxoglutarate carriers do not transport glutathione. FEBS Lett 589, 621-8
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
2011
Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M & Tiranti V (2011) Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal 15, 353-62
Hyvärinen AK, Pohjoismäki JLO, Holt IJ & Jacobs HT (2011) Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication. Mol Biol Rep 38, 1321-8
2010
Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri A, Sadun F, Zeviani M, Sadun AA, Schimpf S, Wissinger B & Carelli V (2010) OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Ophthalmology 117, 1547-53
2009
Trnka J, Blaikie FH, Logan A, Smith RAJ & Murphy MP (2009) Antioxidant properties of MitoTEMPOL and its hydroxylamine. Free Radic Res 43, 4-12
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M & Tiranti V (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1787, 491-501
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M & Zeviani M (2009) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 15, 200-5
Surtees PG, Wainwright NWJ, Bowman R, Luben RN, Wareham NJ, Khaw K-T & Bingham SA (2009) No association between APOE and major depressive disorder in a community sample of 17,507 adults. J Psychiatr Res 43, 843-7
Crichton PG, Parker N, Vidal-Puig AJ & Brand MD (2009) Not all mitochondrial carrier proteins support permeability transition pore formation: no involvement of uncoupling protein 1. Biosci Rep 30, 187-92
Ricart KC, Bolisetty S, Johnson MS, Perez J, Agarwal A, Murphy MP & Landar A (2009) The permissive role of mitochondria in the induction of haem oxygenase-1 in endothelial cells. Biochem J 419, 427-36
2008
Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G & Tiranti V (2008) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet 45, 473-8
2007
Greetham HL, Bingham SA & Burns PA (2007) Adduction of human p53 gene by fecal water: an in vitro biomarker of mutagenesis in the human large bowel. Cancer Epidemiol Biomarkers Prev 16, 2681-5
Sembongi H, Di Re M, Bokori-Brown M & Holt IJ (2007) The yeast Holliday junction resolvase, CCE1, can restore wild-type mitochondrial DNA to human cells carrying rearranged mitochondrial DNA. Hum Mol Genet 16, 2306-14
2005
Montanini L, Regna-Gladin C, Eoli M, Albarosa R, Carrara F, Zeviani M, Bruzzone MGrazia, Broggi G, Boiardi A & Finocchiaro G (2005) Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas. J Neurooncol 74, 87-9
2004
Garavaglia B, Invernizzi F, Carbone MLAgostoni, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G & Nardocci N (2004) GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis 27, 455-63
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
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
1998
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW & Scarlato G (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43, 110-6
Estivill X, Govea N, Barceló E, Badenas C, Romero E, Moral L, Scozzri R, D'Urbano L, Zeviani M & Torroni A (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62, 27-35
1997
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A & Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60, 1107-21
Tengan CH, Gabbai AA, Shanske S, Zeviani M & Moraes CT (1997) Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle. Mutat Res 379, 1-11
1996
Mierau I, Kunji ER, Leenhouts KJ, Hellendoorn MA, Haandrikman AJ, Poolman B, Konings WN, Venema G & Kok J (1996) Multiple-peptidase mutants of Lactococcus lactis are severely impaired in their ability to grow in milk. J Bacteriol 178, 2794-803

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