Massimo Zeviani

Summary

Affiliation: University of Cambridge
Country: UK

Publications

  1. Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez Vizarra E, et al. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Mol Med. 2016;8:176-90 pubmed publisher
  2. Ghezzi D, Zeviani M. Human diseases associated with defects in assembly of OXPHOS complexes. Essays Biochem. 2018;62:271-286 pubmed publisher
  3. 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. ..
  4. 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. ..
  5. 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
  6. 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. ..
  7. 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. ..
  8. 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
  9. 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. ..

More Information

Publications13

  1. Viscomi C, Zeviani M. MtDNA-maintenance defects: syndromes and genes. J Inherit Metab Dis. 2017;40:587-599 pubmed publisher
    ..In most cases, allelic mutations in these genes may lead to profoundly different phenotypes associated with either mtDNA depletion or multiple deletions. ..
  2. Bottani E, Cerutti R, Harbour M, Ravaglia S, Doğan S, Giordano C, et al. TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III. Mol Cell. 2017;67:96-105.e4 pubmed publisher
    ..We show that, in normal conditions, these UQCRFS1 fragments are rapidly removed, but when TTC19 is absent they accumulate within complex III, causing its structural and functional impairment. ..
  3. Civiletto G, Varanita T, Cerutti R, Gorletta T, Barbaro S, Marchet S, et al. Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. Cell Metab. 2015;21:845-54 pubmed publisher
    ..In conclusion, cristae shape amelioration by controlled Opa1 overexpression improves two mouse models of mitochondrial disease. ..
  4. Vidoni S, Harbour M, Guerrero Castillo S, Signes A, Ding S, Fearnley I, et al. MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. Cell Rep. 2017;18:1727-1738 pubmed publisher