Affiliation: University of Cambridge
Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez Vizarra E, et al
. Defective PITRM1 mitochondrial peptidase is associated with AÎ² amyloidotic neurodegeneration. EMBO Mol Med. 2016;8:176-90 pubmed publisher
Ghezzi D, Zeviani M. Human diseases associated with defects in assembly of OXPHOS complexes. Essays Biochem. 2018;62:271-286 pubmed publisher
Viscomi C, Bottani E, Zeviani M. Emerging concepts in the therapy of mitochondrial disease. Biochim Biophys Acta. 2015;1847:544-57 pubmed publisher
..However, new therapeutic strategies have recently been emerging, some of which have shown potential efficacy at the pre-clinical level. This review will present the state of the art on experimental therapy for mitochondrial disorders. ..
Quadalti C, Brunetti D, Lagutina I, Duchi R, Perota A, Lazzari G, et al
. SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype. Biochim Biophys Acta Mol Basis Dis. 2018;1864:2131-2142 pubmed publisher
..In addition, neuropathological findings, indicated a delay in central nervous system development of newborn SURF1-/- piglets. Our results suggest a broader role of sSURF1 in mitochondrial bioenergetics. ..
Iommarini L, Ghelli A, Tropeano C, Kurelac I, Leone G, Vidoni S, et al
. Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization. Int J Mol Sci. 2018;19: pubmed publisher
Cerutti R, Pirinen E, Lamperti C, Marchet S, Sauve A, Li W, et al
. NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease. Cell Metab. 2014;19:1042-9 pubmed publisher
..This strategy is potentially translatable into therapy of mitochondrial disorders in humans. ..
Melchionda L, Haack T, Hardy S, Abbink T, Fernandez Vizarra E, Lamantea E, et al
. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet. 2014;95:315-25 pubmed publisher
..APOPT1 mutations are responsible for infantile or childhood-onset mitochondrial disease, hallmarked by the combination of profound COX deficiency with a distinctive neuroimaging presentation. ..
Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, et al
. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015;97:186-93 pubmed publisher
Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, et al
. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. Biochim Biophys Acta. 2016;1857:1326-1335 pubmed publisher
..This article is part of a Special Issue entitled 'EBEC 2016: 19th European Bioenergetics Conference, Riva del Garda, Italy, July 2-6, 2016', edited by Prof. Paolo Bernardi. ..