Massimo Zeviani

Summary

Country: Italy

Publications

  1. ncbi Mitochondrial disorders
    M Zeviani
    Unit of Biochemistry and Genetics, National Neurological Institute C Besta, Milan, Italy
    Curr Opin Neurol 14:553-60. 2001
  2. 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
  3. ncbi Mitochondrial disorders
    Massimo Zeviani
    Unit of Molecular Neurogenetics, National Institute of Neurology C Besta, Milan, Italy
    Curr Opin Neurol 16:585-94. 2003
  4. ncbi Mitochondrial disorders
    Massimo Zeviani
    Divisione di Neurogenetica Molecolare, Istituto Nazionale Neurologico Carlo Besta, via Temolo 4, 20126 Milano, Italy
    Curr Neurol Neurosci Rep 3:423-32. 2003
  5. ncbi Nuclear genes in mitochondrial disorders
    Massimo Zeviani
    Division of Molecular Neurogenetics, National Neurological Institute Carlo Besta, via Temolo 4, 20126 Milan, Italy
    Curr Opin Genet Dev 13:262-70. 2003
  6. ncbi Mitochondrial disorders
    Massimo Zeviani
    Division of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, 20126 Milan, Italy
    Suppl Clin Neurophysiol 57:304-12. 2004
  7. 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
  8. ncbi Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
    Valeria Tiranti
    Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Institute of Neurology Carlo Besta Istituto di Ricovero e Cura a Carattere Scientifico Foundation, Milan, Italy
    Nat Med 15:200-5. 2009
  9. ncbi Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
    Daniele Ghezzi
    Division of Molecular Neurogenetics, The Carlo Besta Neurological Institute Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126, Milan, Italy
    Am J Hum Genet 86:639-49. 2010
  10. ncbi Identification of novel mutations in five patients with mitochondrial encephalomyopathy
    Lucia Valente
    IRCCS Foundation Neurological Institute C Besta, Milan, Italy
    Biochim Biophys Acta 1787:491-501. 2009

Detail Information

Publications90

  1. ncbi Mitochondrial disorders
    M Zeviani
    Unit of Biochemistry and Genetics, National Neurological Institute C Besta, Milan, Italy
    Curr Opin Neurol 14:553-60. 2001
    ....
  2. 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...
  3. ncbi Mitochondrial disorders
    Massimo Zeviani
    Unit of Molecular Neurogenetics, National Institute of Neurology C Besta, Milan, Italy
    Curr Opin Neurol 16:585-94. 2003
    ..The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research...
  4. ncbi Mitochondrial disorders
    Massimo Zeviani
    Divisione di Neurogenetica Molecolare, Istituto Nazionale Neurologico Carlo Besta, via Temolo 4, 20126 Milano, Italy
    Curr Neurol Neurosci Rep 3:423-32. 2003
    ..The first successful attempts for gene therapy of some mitochondrial diseases have recently been achieved and will hopefully increase in the near future...
  5. ncbi Nuclear genes in mitochondrial disorders
    Massimo Zeviani
    Division of Molecular Neurogenetics, National Neurological Institute Carlo Besta, via Temolo 4, 20126 Milan, Italy
    Curr Opin Genet Dev 13:262-70. 2003
    ..In addition, new strategies - based on transcriptome and proteome analysis, and functional complementation assays - have been applied successfully to mitochondrial medicine...
  6. ncbi Mitochondrial disorders
    Massimo Zeviani
    Division of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, 20126 Milan, Italy
    Suppl Clin Neurophysiol 57:304-12. 2004
    ..These advances provide both diagnostic tools and new pathogenetic insights in a rapidly expanding area of neurogenetics...
  7. 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...
  8. ncbi Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
    Valeria Tiranti
    Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Institute of Neurology Carlo Besta Istituto di Ricovero e Cura a Carattere Scientifico Foundation, Milan, Italy
    Nat Med 15:200-5. 2009
    ..Therefore, ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy...
  9. ncbi Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
    Daniele Ghezzi
    Division of Molecular Neurogenetics, The Carlo Besta Neurological Institute Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126, Milan, Italy
    Am J Hum Genet 86:639-49. 2010
    ....
  10. ncbi Identification of novel mutations in five patients with mitochondrial encephalomyopathy
    Lucia Valente
    IRCCS Foundation Neurological Institute C Besta, Milan, Italy
    Biochim Biophys Acta 1787:491-501. 2009
    ..Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders...
  11. ncbi Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice
    Carlo Viscomi
    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
    Hum Mol Genet 18:12-26. 2009
    ..Coincidental with the onset of FSGS, there was hardly any mtDNA left in the glomerular tufts. These results demonstrate that Mpv17 controls mtDNA copy number by a highly tissue- and possibly cytotype-specific mechanism...
  12. ncbi Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations
    Antonella Spinazzola
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center, Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation, Milano, Italy
    Arch Neurol 65:1108-13. 2008
    ..Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS)...
  13. ncbi FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency
    Daniele Ghezzi
    Division of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, 20126 Milan, Italy
    Am J Hum Genet 83:415-23. 2008
    ..The corresponding protein is localized in the mitochondrial inner compartment. Preliminary data indicate that FASTKD2 plays a role in mitochondrial apoptosis...
  14. ncbi Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
    Daniele Ghezzi
    Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    Hum Mol Genet 18:1058-64. 2009
    ..We found no difference in import efficiency and protein maturation between wild-type and mutant MR-1 variants. These results indicate that PNKD is due to a novel disease mechanism based on a deleterious action of the MTS...
  15. ncbi Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis
    Daniele Ghezzi
    Unit of Molecular Neurogenetics, Fondazione IRCCS, Milan, Italy
    Am J Hum Genet 90:1079-87. 2012
    ..The respiratory yeast phenotype was dramatically worsened in stress conditions and in the presence of a paromomycin-resistant (P(R)) mitochondrial rRNA mutation. Lastly, in vivo mtDNA translation was impaired in the mutant yeast strains...
  16. ncbi Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
    Valeria Massa
    Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, 20126 Milano, Italy
    Am J Hum Genet 82:1281-9. 2008
    ..We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency...
  17. ncbi Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy
    Paola Arzuffi
    Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology IRCCS, Milan, Italy
    Neuromuscul Disord 22:50-5. 2012
    ..These findings are consistent with an unconventional pathogenic mechanism causing the tandem duplication to interfere with the maturation of the mitochondrial tRNA(Phe) transcript...
  18. ncbi Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy
    Ivano Di Meo
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Institute of Neurology Carlo Besta IRCCS Foundation, Milan, Italy
    Antioxid Redox Signal 15:353-62. 2011
    ....
  19. ncbi Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
    Erika Fernandez-Vizarra
    Division of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders of Infancy and Childhood, National Institute of Neurology C Besta, Milan, Italy
    J Med Genet 44:173-80. 2007
    ..Subjects and..
  20. ncbi Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice
    Carlotta Dell'agnello
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milano, Italy
    Hum Mol Genet 16:431-44. 2007
    ....
  21. ncbi How do human cells react to the absence of mitochondrial DNA?
    Rossana Mineri
    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
    PLoS ONE 4:e5713. 2009
    ....
  22. ncbi Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects
    Erika Fernandez-Vizarra
    Department of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C Besta, 20126 Milan, Italy
    Biochim Biophys Acta 1793:200-11. 2009
    ..We review here current knowledge of the biogenesis of OXPHOS complexes based on investigation of the corresponding disorders...
  23. ncbi Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy
    Ivano Di Meo
    Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology IRCCS, Milan, Italy
    EMBO Mol Med 4:1008-14. 2012
    ....
  24. ncbi Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
    Lucia Valente
    Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Division of Molecular Neurogenetics, National Neurological Institute Carlo Besta, Milano, Italy
    Am J Hum Genet 80:44-58. 2007
    ....
  25. ncbi In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis
    Carlo Viscomi
    Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology IRCCS, Milan, Italy
    Cell Metab 14:80-90. 2011
    ..These results open new perspectives for therapy of mitochondrial disease...
  26. ncbi A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
    Costanza Lamperti
    Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126 Milan, Italy
    Mol Genet Metab 107:403-8. 2012
    ....
  27. ncbi Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
    Marianna Bugiani
    Division of Molecular Neurogenetics, IRCCS Neurological Institute C Besta, Milano, Italy
    Am J Med Genet A 146:2221-6. 2008
    ..All patients were homozygous for a novel intragenic COH1 deletion spanning exon 6 to exon 16, suggesting a founder effect. The discovery of this mutation has made carrier detection and prenatal diagnosis possible in this population...
  28. ncbi Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism
    Federica Invernizzi
    Unit of Molecular Neurogenetics, Pierfranco e Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation IRCCS, Milan, Italy
    Neuromuscul Disord 18:460-4. 2008
    ..These observations support the hypothesis that mtDNA dysfunction is engaged in the pathogenesis of idiopathic Parkinson's disease...
  29. ncbi MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    Antonella Spinazzola
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milan 20126, Italy
    Nat Genet 38:570-5. 2006
    ....
  30. ncbi Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy
    Edoardo Malfatti
    Unit of Molecular Neurogenetics, Neurological Institute C Besta Foundation IRCCS, via Libero Temolo 4, 20126 Milano, Italy
    Brain 130:1894-904. 2007
    ..In our experience ND gene mutations are relatively common in CI-defective mitochondrial encephalopathy of both children and adults...
  31. ncbi Mitochondrial disorders
    Massimo Zeviani
    Unit of Molecular Neurogenetics, Institute of Neurology C Besta, Foundation IRCCS, Milan, Italy
    Curr Opin Neurol 20:564-71. 2007
    ..In this review we highlight the most recent advances in the field, including the characterization of new disease genes, new physiopathological insights, and the role of mitochondrial dysfunction in neurodegeneration...
  32. ncbi Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy
    Carlo Viscomi
    The Foundation Carlo Besta Institute of Neurology, Milan, Italy
    Nat Med 16:869-71. 2010
    ..The same dual treatment caused marked clinical improvement in five affected children, with hardly any adverse or side effects...
  33. ncbi The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex
    Lucia Valente
    Unit of Molecular Neurogenetics, IRCCS Foundation, Neurological Institute C Besta, 20126 Milano, Italy
    Biochim Biophys Acta 1792:791-5. 2009
    ..This is the first analysis on the molecular mechanism of a mtDNA translation defect due to a nuclear gene mutation...
  34. ncbi SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
    Daniele Ghezzi
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for Study of Children s Mitochondrial Disorders, Foundation IRCCS Neurological Institute C Besta, Milan, Italy
    Nat Genet 41:654-6. 2009
    ..SDHAF1 is the first bona fide SDH assembly factor reported in any organism...
  35. ncbi Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
    Daniele Ghezzi
    Unit of Molecular Neurogenetics, The Foundation Carlo Besta Institute of Neurology, Milan, Italy
    Nat Genet 43:259-63. 2011
    ..TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies...
  36. ncbi MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I
    Costanza Lamperti
    Unit of Molecular Neurogenetics, Fondazione Istituto Neurologico Carlo Besta IRCCS, via Temolo 4, 20126 Milano, Italy
    Neuromuscul Disord 22:990-4. 2012
    ..Q232K aminoacid change. Analysis on transmitochondrial cybrids demonstrated that the mutation is indeed associated with COX deficiency, i.e. pathogenic...
  37. ncbi Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology
    Daniele Ghezzi
    Carlo Besta Institute of Neurology, Milan, Italy
    Adv Exp Med Biol 748:65-106. 2012
    ..We present an overview on the hypothesized assembly processes of the different MRC complexes, focusing on known assembly factors and their clinical importance...
  38. ncbi Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
    Gianfrancesco Ferrari
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Institute of Neurology, Milano, Italy
    Brain 128:723-31. 2005
    ....
  39. ncbi Disorders of nuclear-mitochondrial intergenomic signaling
    Antonella Spinazzola
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute, Milan, Italy
    Gene 354:162-8. 2005
    ....
  40. ncbi Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation
    Antonella Spinazzola
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, via Temolo 4, 21033 Milan, Italy
    Neuromuscul Disord 14:815-7. 2004
    ..Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G-->A with COX-depleted fibres. These results indicate that the 5698G-->A is pathogenic...
  41. ncbi Disorders of nuclear-mitochondrial intergenomic communication
    Antonella Spinazzola
    Unit of Molecular Neurogenetics, C Besta Neurological Institute Foundation IRCCS, via Libero Temolo 4, Milano, 20126, Italy
    Biosci Rep 27:39-51. 2007
    ..Mutations in any of these factors may alter the cross-talk between the two genomes and cause diseases that affect mtDNA integrity or expression, being inherited as mendelian traits...
  42. ncbi Mitochondrial disorders
    Massimo Zeviani
    Division of Molecular Neurogenetics, Istituto Nazionale Neurologico C Besta, Via Celoria 11 20133 Milan, Italy
    Brain 127:2153-72. 2004
    ..This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS...
  43. ncbi Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians
    Antonella Spinazzola
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation, via Temolo 4, 20126 Milano, Italy
    Neuromuscul Disord 18:315-8. 2008
    ..Complete discordance between Italian and Navajo haplotypes rules out the former hypothesis, suggesting that the mutation occurred independently in the two populations...
  44. ncbi Infantile mitochondrial encephalopathy
    Graziella Uziel
    Unit of Child Neurology, The Carlo Besta Neurological Institute Foundation IRCCS, Via Celoria 11, 20133 Milan, Italy
    Semin Fetal Neonatal Med 16:205-15. 2011
    ..e. the mitochondrial respiratory chain...
  45. ncbi Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
    Valeria Tiranti
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    Am J Hum Genet 74:239-52. 2004
    ..quot; The severe consequences of its malfunctioning indicate an important role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism...
  46. ncbi Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
    Alessandro Agostino
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, Istituto Nazionale Neurologico C Besta IRCCS, Milano, Italy
    Hum Mol Genet 12:399-413. 2003
    ..Our model constitutes a useful tool to investigate the function of Surf1p, help understand the pathogenesis of Surf1p deficiency in vivo, and evaluate the efficacy of treatment...
  47. ncbi Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes
    Antonella Spinazzola
    Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, Milano, Italy
    Adv Exp Med Biol 652:69-84. 2009
    ..Mutations in any of these factors may alter the cross-talk between the two genomes and cause Mendelian diseases that affect mtDNA integrity or expression...
  48. ncbi Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas
    Luisa Montanini
    Unit of Biochemistry and Genetics, Istituto Nazionale Neurologico Besta Milan, Italy
    J Neurooncol 74:87-9. 2005
    ..These results imply that mtDNA mutations are unlikely to play a role in diagnostic or prognostic evaluations of gliomas: their detection, however, could be of use for the clinical follow-up of malignant gliomas...
  49. ncbi A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III
    Eleonora Lamantea
    Division of Biochemistry and Genetics, National Neurological Institute C. Besta via Celoria, 11. 20133 Milan, Italy
    Neuromuscul Disord 12:49-52. 2002
    ..Clinical presentation and laboratory findings strongly support the hypothesis that this mutation is the primary cause of the disease in our patient...
  50. ncbi Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation
    Ettore Salsano
    IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy
    J Neurol Sci 300:165-8. 2011
    ..Finally, our case suggests that common neuroleptic and antidepressant drugs may be clinically efficacious in the management of psychiatric symptoms associated with MIDs...
  51. ncbi Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
    Eleonora Lamantea
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milan, Italy
    Ann Neurol 52:211-9. 2002
    ....
  52. ncbi Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy
    Valeria Tiranti
    Pierfranco and Luisa Mariani Center for Research on Children s Mitochondrial Disorders, Unit of Molecular Neurogenetics, Institute of Neurology Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Foundation, Milan, Italy
    Cold Spring Harb Perspect Biol 5:a011437. 2013
    ..We will also discuss the options that are now conceivable for preventing genetically driven chronic H(2)S toxicity, taking into account that a complete understanding of the physiopathology of H(2)S has still to be achieved...
  53. ncbi OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape
    Massimo Zeviani
    Unit of Molecular Neurogenetics, Foundation Istituto Neurologico Carlo Besta, Via Temolo 4 - 20126 Milano, Italy
    Brain 131:314-7. 2008
  54. ncbi Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians
    Daniele Ghezzi
    Unit of Molecular Neurogenetics, National Neurological Institute, Carlo Besta, Milan, Italy
    Eur J Hum Genet 13:748-52. 2005
    ..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD...
  55. ncbi Human mitochondrial complex I assembly is mediated by NDUFAF1
    Rutger O Vogel
    Department of Paediatrics, Radboud University Nijmegen Medical Centre, Netherlands
    FEBS J 272:5317-26. 2005
    ..Based on these data, we propose that NDUFAF1 is an important protein for the assembly/stability of complex I...
  56. ncbi Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation
    Joslyn K Brunelle
    Department of Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA
    Cell Metab 1:409-14. 2005
    ..These findings provide genetic evidence that oxygen sensing is dependent on mitochondrial-generated reactive oxygen species (ROS) but independent of oxidative phosphorylation...
  57. ncbi Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
    Enrico Baruffini
    Department of Genetics, Biology of Microorganisms, Anthropology, Evolution, University of Parma, Italy
    Hum Mol Genet 15:2846-55. 2006
    ..Therefore, an increase of the mitochondrial dNTP pool and/or a decrease of reactive oxygen species can prevent the mtDNA damage induced by pol gamma mutations in yeast and, possibly, in humans...
  58. ncbi Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability
    Flavia Fontanesi
    Department of Genetics Anthropology Evolution, University of Parma, 43100 Parma, Italy
    Hum Mol Genet 13:923-34. 2004
    ..cerevisiae is a suitable in vivo model to study the pathogenicity of the human ANT1 mutations and the pathophysiology leading to impairment of oxidative phosphorylation and damage of mtDNA integrity, as found in adPEO...
  59. ncbi Depletion of mtDNA: syndromes and genes
    Simona Alberio
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, C Besta Neurological Institute Foundation, IRCCS, Italy
    Mitochondrion 7:6-12. 2007
    ....
  60. ncbi Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy
    Erika Fernandez-Vizarra
    Department of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, Milano, Italy
    Hum Mol Genet 16:1241-52. 2007
    ..We have also shown that BCS1L is contained within a high-molecular-weight supramolecular complex which is clearly distinct from complex III intermediates...
  61. ncbi Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case
    Simona Orcesi
    Department of Child Neurology and Psychiatry, Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS C. Mondino Foundation, University of Pavia, Italy
    J Child Neurol 21:79-82. 2006
    ..J Child Neurol 2006;21:79-82)...
  62. ncbi Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes
    Liya Wang
    Department of Molecular Bioscience, Section of Veterinary Medical Biochemistry, SLU, The Biomedical Centre, P O Box 575, SE 751 23 Uppsala, Sweden
    Mol Genet Metab 84:75-82. 2005
    ..5% for dGK as compared to the wild-type enzymes. Altered competition between dCyd and dThd was observed for the T77M mutant. The residual activities of the two mitochondrial enzymes correlated directly with disease development...
  63. ncbi Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene
    Vincenza Fetoni
    Unit of Neurology, Public Health Hospital, Melegnano Milan, Italy
    Neuromuscul Disord 14:723-6. 2004
    ..Investigation on several family members showed a correlation between mutation load and clinical severity. This is the second report documenting the association of lower motor neurone involvement with a specific mtDNA...
  64. ncbi Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation
    Valerio Carelli
    Istituto di Clinica Neurologica, Universita di Bologna, Via U Foscolo 7, 40123 Bologna, Italy
    Arch Neurol 59:264-70. 2002
    ....
  65. ncbi The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool
    Alessandro Achilli
    Dipartimento di Genetica e Microbiologia, , Pavia, Italy
    Am J Hum Genet 75:910-8. 2004
    ..The survey revealed that the previously reported excess of H among these families is caused entirely by H3 and is due to a major, probably nonrecent, founder event...
  66. ncbi Risk of developing a mitochondrial DNA deletion disorder
    Patrick F Chinnery
    Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 364:592-6. 2004
    ..Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known...
  67. ncbi The V368i mutation in Twinkle does not segregate with AdPEO
    Joaquin Arenas
    Ann Neurol 53:278. 2003
  68. ncbi Stroke due to mitochondrial disorders in Saudi children
    Mustafa A Salih
    Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia
    Saudi Med J 27:S81-90. 2006
    ..To report on the clinical and biochemical features of patients who presented with stroke due to mitochondrial disorders amongst a prospective and retrospective cohort of Saudi children...
  69. ncbi Effects of riboflavin in children with complex II deficiency
    Marianna Bugiani
    Department of Child Neurology, Istituto Nazionale Neurologico C Besta, Milano, Italy
    Brain Dev 28:576-81. 2006
    ..Riboflavin supplementation to the growth medium of cultured fibroblasts resulted in a 2-fold increase of complex II activity in patients, but not in controls...
  70. ncbi Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment
    Howard T Jacobs
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Eur J Hum Genet 13:26-33. 2005
    ....
  71. ncbi Genotypes from patients indicate no paternal mitochondrial DNA contribution
    Robert W Taylor
    School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Ann Neurol 54:521-4. 2003
    ..Our findings suggest that paternal transmission of mtDNA is rare and should not alter our genetic advice to families...
  72. ncbi Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
    Maria A Graziewicz
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
    Nat Struct Mol Biol 11:770-6. 2004
    ..The reduced selectivity and catalytic efficiency of the autosomal dominant PEO mutants predict in vivo dysfunction, and the extent of biochemical defects correlates with the clinical severity of the disease...
  73. ncbi Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy
    Luigi Palmieri
    Department of Pharmaco Biology, Laboratory of Biochemistry and Molecular Biology, University of Bari, Italy
    Hum Mol Genet 14:3079-88. 2005
    ....
  74. ncbi Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances
    Neil Ashley
    Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Level 3, Women s Centre, The John Radcliffe Hospital, Oxford OX3 9DU, UK
    Hum Mol Genet 16:1400-11. 2007
    ..Because deviations from the normal concentrations of dNTPs are known to be mutagenic, we suggest that intramitochondrial nucleotide imbalance could underlie the multiple mtDNA mutations observed in these patients...
  75. ncbi The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
    Charalampos Tzoulis
    Department of Neurology, Institute of Clinical Medicine, University of Bergen and Haukeland University Hospital Bergen, Norway
    Brain 129:1685-92. 2006
    ..Compound heterozygotes have a significantly more severe phenotype raising the possibility of a dominant negative effect...
  76. ncbi Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...
  77. ncbi Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    Rita Horvath
    Metabolic Diseases Centre, Munich-Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
    Brain 129:1674-84. 2006
    ..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling...
  78. ncbi Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion
    Karl J Morten
    University of Oxford, Nuffield Department of Obstetrics and Gynaecology, The Womens Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Mitochondrion 7:386-95. 2007
    ....
  79. ncbi 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands
    Patrick F Chinnery
    Mitochondrial Research Group and Institutes of Neuroscience and Human Genetics, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Neuromuscul Disord 18:259-67. 2008
  80. ncbi X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Newcastle University, UK
    Mol Vis 13:2339-43. 2007
    ..Small studies have failed to detect dramatic skewed X-inactivation in women transmitting LHON mutations. However, segregation analyses predicted skewing only in a proportion of women, which would not have been detected in these studies...
  81. ncbi POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
    Bernt A Engelsen
    Institute of Clinical Medicine, University of Bergen, Haukeland University Hospital, Bergen, Norway
    Brain 131:818-28. 2008
    ..All patients developed status epilepticus and 11 patient deaths were, all related to prolonged convulsive status epilepticus, including two with liver failure apparently precipitated by treatment with sodium valproate...
  82. ncbi Systematic identification of human mitochondrial disease genes through integrative genomics
    Sarah Calvo
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nat Genet 38:576-82. 2006
    ..The integrative approach promises to better define the role of mitochondria in both rare and common human diseases...
  83. ncbi Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication
    Andreas Wiedmer
    The Wistar Institute, 3601 Spruce St, Philadelphia, PA 19104, USA
    J Virol 82:4647-55. 2008
    ..Mitochondrial DNA synthesis and genome copy number were reduced by Zta-induced EBV lytic replication. We conclude that Zta interaction with mtSSB serves the dual function of facilitating viral and blocking mitochondrial DNA replication...
  84. ncbi Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
    Neil Ashley
    Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women s Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Hum Mol Genet 17:2496-506. 2008
    ..This is consistent with current functional models for eukaryotic DNA polymerases, which alternate between polymerizing and editing modes, as determined by competition between these two active sites for the 3' end of the DNA...
  85. ncbi Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees
    Valerio Carelli
    Dipartimento di Scienze Neurologiche, Universita di Bologna, Bologna, Italy
    Am J Hum Genet 78:564-74. 2006
    ..The survey of the two sites in 12 of the Brazilian subjects revealed triplasmy in most cases, but there was no evidence of the tetraplasmy that would be expected in the case of mtDNA recombination...
  86. ncbi Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I
    Arcangela Iuso
    Department of Medical Biochemistry, Biology, and Physics, University of Bari, Policlinico, Piazza Giulio Cesare, 70124 Bari, Italy
    J Biol Chem 281:10374-80. 2006
    ..These are relevant observations for a possible therapeutical strategy in NDUFS1 mutant patients...
  87. ncbi Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
    Gavin Hudson
    Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
    Am J Hum Genet 77:1086-91. 2005
    ..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder...
  88. ncbi Zidovudine administration during pregnancy and mitochondrial disease in the offspring
    Pier Angelo Tovo
    Department of Pediatrics, University of Turin, Turin, Italy
    Antivir Ther 10:697-9. 2005
    ..Fetal exposure to ZDV may have caused the mtDNA depletion, which, although temporary, led to irreversible but not progressive brain damage...
  89. ncbi Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1
    Mauro A Zordan
    CNR Institute of Biomedical Technology, University of Padova, Padova, Italy
    Genetics 172:229-41. 2006
    ..These results indicate important functions for SURF1 specifically related to COX activity and suggest a crucial role of mitochondrial energy pathways in organogenesis and CNS development and function...
  90. ncbi The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe
    Kate Craig
    Brain 130:E69; author reply E70. 2007