Publications

Found 509 results
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2013
Melchionda L, Fang M, Wang H, Fugnanesi V, Morbin M, Liu X, Li W, Ceccherini I, Farina L, Savoiardo M, D'Adamo P, Zhang J, Costa A, Ravaglia S, Ghezzi D & Zeviani M (2013) Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. Orphanet J Rare Dis 8, 66
Salsano E, Farina L, Lamperti C, Piscosquito G, Salerno F, Morandi L, Carrara F, Lamantea E, Zeviani M, Uziel G, Savoiardo M & Pareyson D (2013) Adult-onset leukodystrophies from respiratory chain disorders: do they exist?. J Neurol 260, 1617-23
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA & Prokisch H (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 93, 211-23
Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C & Zeviani M (2013) A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat 34, 1619-22
Barboni P, Valentino MLucia, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M & Carelli V (2013) Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain 136, e231
Indrieri A, Conte I, Chesi G, Romano A, Quartararo J, Tatè R, Ghezzi D, Zeviani M, Goffrini P, Ferrero I, Bovolenta P & Franco B (2013) The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. EMBO Mol Med 5, 280-93
Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli J-P, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JPH, Crowne E, Barford D, Wareham NJ, O'Rahilly S, Murphy MP, Powell DR, Barroso I & I Farooqi S (2013) KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell 155, 765-77
Finichiu PG, James AM, Larsen L, Smith RAJ & Murphy MP (2013) Mitochondrial accumulation of a lipophilic cation conjugated to an ionisable group depends on membrane potential, pH gradient and pK(a): implications for the design of mitochondrial probes and therapies. J Bioenerg Biomembr 45, 165-73
Yu E, Calvert PA, Mercer JR, Harrison J, Baker L, Figg NL, Kumar S, Wang JC, Hurst LA, Obaid DR, Logan A, West NEJ, Clarke MCH, Vidal-Puig A, Murphy MP & Bennett MR (2013) Mitochondrial DNA damage can promote atherosclerosis independently of reactive oxygen species through effects on smooth muscle cells and monocytes and correlates with higher-risk plaques in humans. Circulation 128, 702-12
Dashdorj A, Jyothi KR, Lim S, Jo A, Nguyen MNam, Ha J, Yoon K-S, Kim HJong, Park J-H, Murphy MP & Kim SSoo (2013) Mitochondria-targeted antioxidant MitoQ ameliorates experimental mouse colitis by suppressing NLRP3 inflammasome-mediated inflammatory cytokines. BMC Med 11, 178
Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M & Ghezzi D (2013) MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum Mutat 34, 1501-9
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
Billson HA, Holland C, Curwell J, Davey VL, Kinsey L, Lawton LJ, Whitworth AJ & Burden S (2013) Perioperative nutrition interventions for women with ovarian cancer. Cochrane Database Syst Rev, CD009884
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
Hildebrandt TM, Di Meo I, Zeviani M, Viscomi C & Braun H-P (2013) Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications. Biosci Rep 33
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
Zhang L, Karsten P, Hamm S, Pogson JH, A Muller-Rischart K, Exner N, Haass C, Whitworth AJ, Winklhofer KF, Schulz JB & Voigt A (2013) TRAP1 rescues PINK1 loss-of-function phenotypes. Hum Mol Genet 22, 2829-41
2012
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
Reijns MAM, Rabe B, Rigby RE, Mill P, Astell KR, Lettice LA, Boyle S, Leitch A, Keighren M, Kilanowski F, Devenney PS, Sexton D, Grimes G, Holt IJ, Hill RE, Taylor MS, Lawson KA, Dorin JR & Jackson AP (2012) Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development. Cell 149, 1008-22
Divakaruni AS, Humphrey DM & Brand MD (2012) Fatty acids change the conformation of uncoupling protein 1 (UCP1). J Biol Chem 287, 36845-53
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W & Prokisch H (2012) Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet 90, 314-20
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
Mercer JR, Yu E, Figg N, Cheng K-K, Prime TA, Griffin JL, Masoodi M, Vidal-Puig A, Murphy MP & Bennett MR (2012) The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM+/-/ApoE-/- mice. Free Radic Biol Med 52, 841-9

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