M Zeviani

Summary

Country: Italy

Publications

  1. ncbi Disorders of mitochondria and related metabolism
    M Zeviani
    Unit of Molecular Medicine, Children s Hospital Bambino Gesu, Rome, Italy
    Curr Opin Neurol 10:160-7. 1997
  2. ncbi Mitochondrial disorders
    M Zeviani
    Division of Biochemistry and Genetics, National Neurological Institute IRCCS C Besta, Milan, Italy
    Medicine (Baltimore) 77:59-72. 1998
  3. ncbi Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
    A Agostino
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    Neurology 60:1354-6. 2003
  4. doi Clinical and molecular features of mitochondrial DNA depletion syndromes
    A Spinazzola
    Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C Besta, Via Temolo, 4, 20126, Milan, Italy
    J Inherit Metab Dis 32:143-58. 2009
  5. ncbi Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)
    V Tiranti
    Istituto Nazionale Neurologico C Besta, Divisione di Biochimica e Genetica, Milan, Italy
    Gene 126:219-25. 1993
  6. pmc Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk
    C Lamperti
    Unit of Molecular Neurogenetics, C Besta Neurological Institute IRCCS Foundation, Milan, Italy
    Acta Myol 28:2-11. 2009
  7. ncbi Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases
    S Franceschetti
    Neurological Institute C Besta, Milan, Italy
    Acta Neurol Scand 87:219-23. 1993
  8. ncbi Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database
    V Tiranti
    Division of Biochemistry and Genetics, National Neurological Institute C Besta, Milano, Italy
    Hum Mol Genet 6:615-25. 1997
  9. pmc Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome
    A Limongelli
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Centre for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    J Med Genet 41:342-9. 2004
  10. ncbi Epileptic phenotypes associated with mitochondrial disorders
    L Canafoglia
    Department of Clinical Neurophysiology, Epilepsy Center, Istituto Nazionale Neurologico C. Besta, Milan, Italy
    Neurology 56:1340-6. 2001

Collaborators

Detail Information

Publications23

  1. ncbi Disorders of mitochondria and related metabolism
    M Zeviani
    Unit of Molecular Medicine, Children s Hospital Bambino Gesu, Rome, Italy
    Curr Opin Neurol 10:160-7. 1997
    ....
  2. ncbi Mitochondrial disorders
    M Zeviani
    Division of Biochemistry and Genetics, National Neurological Institute IRCCS C Besta, Milan, Italy
    Medicine (Baltimore) 77:59-72. 1998
    ..The recent advances in genetic studies provide both diagnostic tools and new pathogenetic insights in this rapidly expanding area of human pathology...
  3. ncbi Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
    A Agostino
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    Neurology 60:1354-6. 2003
    ..Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive external ophthalmoplegia with multiple mtDNA deletions...
  4. doi Clinical and molecular features of mitochondrial DNA depletion syndromes
    A Spinazzola
    Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C Besta, Via Temolo, 4, 20126, Milan, Italy
    J Inherit Metab Dis 32:143-58. 2009
    ..Five of our patients carried previously unreported mutations in one of the eight MDS genes...
  5. ncbi Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB)
    V Tiranti
    Istituto Nazionale Neurologico C Besta, Divisione di Biochimica e Genetica, Milan, Italy
    Gene 126:219-25. 1993
    ..coli F-sex factor SSB, indicating the existence of a broad class of DNA-binding proteins with structural and functional similarities both in prokaryotes and in prokaryote-derived organelles of higher organisms...
  6. pmc Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk
    C Lamperti
    Unit of Molecular Neurogenetics, C Besta Neurological Institute IRCCS Foundation, Milan, Italy
    Acta Myol 28:2-11. 2009
    ..Novel disease genes have recently been added to this list, including OPA1 and GFER, and new clinical variants add further complexity to this expanding area of mitochondrial medicine...
  7. ncbi Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases
    S Franceschetti
    Neurological Institute C Besta, Milan, Italy
    Acta Neurol Scand 87:219-23. 1993
    ..Molecular genetical investigation of mtDNA demonstrated the reported heteroplasmic point mutation at nt 8344 of mtDNA in the two MERRF patients, while it was negative in all of the others...
  8. ncbi Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database
    V Tiranti
    Division of Biochemistry and Genetics, National Neurological Institute C Besta, Milano, Italy
    Hum Mol Genet 6:615-25. 1997
    ....
  9. pmc Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome
    A Limongelli
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Centre for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    J Med Genet 41:342-9. 2004
    ..We present a family comprising a clinically normal mother and two daughters, each with severe encephalopathy with onset in late childhood. A third daughter had died previously of an earlier onset but neuropathologically similar disease...
  10. ncbi Epileptic phenotypes associated with mitochondrial disorders
    L Canafoglia
    Department of Clinical Neurophysiology, Epilepsy Center, Istituto Nazionale Neurologico C. Besta, Milan, Italy
    Neurology 56:1340-6. 2001
    ..Except for those with an A8344G mitochondrial DNA point mutation, most of our patients had partial seizures or EEG signs indicating a focal origin...
  11. ncbi Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
    V Petruzzella
    Unit of Molecular Medicine, Ospedale Pediatrico Bambino Gesu, Rome, Italy
    Genomics 54:494-504. 1998
    ..However, both sequence analysis and functional complementation assays on an index patient do not support an etiological role for any of these genes...
  12. pmc 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
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 60:1107-21. 1997
    ..This finding suggests that one ancient combination of haplogroup J-specific mutations increases both the penetrance of the two primary mutations 11778 and 14484 and the risk of disease expression...
  13. pmc Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells
    F Invernizzi
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C Besta, Milan, Italy
    Mitochondrion 12:328-35. 2012
    ..Results demonstrate that first level screening based on microscale oxygraphy is more sensitive, cheaper and rapid than spectrophotometry for the biochemical evaluation of cells from patients with suspected mitochondrial disorders...
  14. pmc Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
    M Bugiani
    Department of Child Neurology, Istituto Nazionale Neurologico C Besta, Milan, Italy
    J Med Genet 42:e28. 2005
    ..Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX...
  15. ncbi Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations
    P Corona
    Division of Biochemistry and Genetics, National Neurological Institute C Besta, Milan, Italy
    Ann Neurol 51:118-22. 2002
    ....
  16. ncbi Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    G Casari
    Telethon Institute of Genetics and Medicine, Milan, Italy
    Cell 93:973-83. 1998
    ..Analysis of muscle biopsies from two patients carrying Paraplegin mutations showed typical signs of mitochondrial OXPHOS defects, thus suggesting a mechanism for neurodegeneration in HSP-type disorders...
  17. ncbi The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32
    V Tiranti
    Division of Biochemistry and Genetics, C Besta National Neurological Institute, Milan, Italy
    Genomics 27:555-7. 1995
  18. ncbi The expanding spectrum of nuclear gene mutations in mitochondrial disorders
    M Zeviani
    Division of Biochemistry and Genetics, Carlo Besta National Neurological Institute, Via Celoria 11, 20133 Milan, Italy
    Semin Cell Dev Biol 12:407-16. 2001
    ..This scenario is rapidly changing, thanks to the discovery of several OXPHOS-related human genes, and to the identification of mutations responsible for different clinical syndromes...
  19. doi Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
    R Mineri
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, RCCS Foundation Neurological Institute C Besta, Milan, Italy
    J Med Genet 45:473-8. 2008
    ..Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life...
  20. ncbi Dominance in mitochondrial disorders
    M Zeviani
    Unit of Molecular Neurogenetics, National Institute of Neurology C Besta, Milan, Italy
    J Inherit Metab Dis 28:287-99. 2005
    ..In addition, maternally inherited mutations of mitochondrial DNA can sometimes simulate dominant traits, mainly because of reduced penetrance and complex interaction with genetic and environmental factors...
  21. ncbi Mitochondrial disorders
    M Zeviani
    Unit of Biochemistry and Genetics, National Neurological Institute C Besta, Milan, Italy
    Curr Opin Neurol 14:553-60. 2001
    ....
  22. ncbi Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations
    C Gellera
    Division of Biochemistry and Genetics, National Neurological Institute IRCCS, Carlo Besta, Via Celoria 11, 20133, Milan, Italy
    Neuromuscul Disord 11:404-10. 2001
    ..In addition, in one SALS patient we identified an A95T amino acid substitution, that is apparently a non-pathogenic SOD1 variant. Our study increases the number of ALS-associated SOD1 gene mutations...
  23. pmc A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis
    V Tiranti
    Istituto Nazionale Neurologico C Besta, Divisione di Biochimica e Genetica, Milan, Italy
    Nucleic Acids Res 19:4291. 1991