Valeria Tiranti

Summary

Affiliation: Istituto Nazionale Neurologico Carlo Besta
Country: Italy

Publications

  1. pmc Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
    Dario Brunetti
    Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C Besta, Milan, Italy
    Hum Mol Genet 21:5294-305. 2012
  2. pmc 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
  3. ncbi request reprint 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
  4. ncbi request reprint 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
  5. ncbi request reprint 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
  6. pmc 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
  7. ncbi request reprint C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation
    Celeste Panteghini
    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
    Semin Pediatr Neurol 19:75-81. 2012
  8. ncbi request reprint 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
  9. pmc 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
  10. pmc 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

Collaborators

Detail Information

Publications18

  1. pmc Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
    Dario Brunetti
    Unit of Molecular Neurogenetics, IRCCS Foundation Neurological Institute C Besta, Milan, Italy
    Hum Mol Genet 21:5294-305. 2012
    ....
  2. pmc 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...
  3. ncbi request reprint 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...
  4. ncbi request reprint 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
    ....
  5. ncbi request reprint 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...
  6. pmc 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
    ....
  7. ncbi request reprint C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation
    Celeste Panteghini
    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
    Semin Pediatr Neurol 19:75-81. 2012
    ..A large fraction of patients still remain without a molecular genetics diagnosis, suggesting that additional NBIA genes are still to be discovered...
  8. ncbi request reprint 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...
  9. pmc 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
    ..However, given its role in EE, the name of the gene has been changed to "ETHE1." The severe consequences of its malfunctioning indicate an important role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism...
  10. pmc 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
    ....
  11. ncbi request reprint 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...
  12. pmc 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
    ....
  13. pmc Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation
    Sabrina Dusi
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C Besta, 20126 Milan, Italy
    Am J Hum Genet 94:11-22. 2014
    ..This is the second inborn error of coenzyme A biosynthesis to be implicated in NBIA. ..
  14. ncbi request reprint 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
    ....
  15. ncbi request reprint 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...
  16. pmc Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model
    Dario Brunetti
    1 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C Besta, Milan, Italy
    Brain 137:57-68. 2014
    ..We here demonstrate that pantethine administration can prevent the onset of the neuromuscular phenotype in mice suggesting the possibility of experimental treatment in patients with pantothenate kinase-associated neurodegeneration. ..
  17. ncbi request reprint Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes
    Paola Venco
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute Carlo Besta, 20126 Milan, Italy
    Biochem Soc Trans 42:1069-74. 2014
    ..These two inborn errors of CoA metabolism further support the concept that dysfunctions in CoA synthesis may play a crucial role in the pathogenesis of NBIA. ..
  18. pmc Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
    Valerio Leoni
    Laboratory of Clinical Pathology and Medical Genetics IRCCS Foundation Neurological Institute C Besta, Milan, Italy
    Mol Genet Metab 105:463-71. 2012
    ..Our study illustrates the value of metabolic profiling as a tool for systematically exploring the biochemical basis of inherited metabolic diseases...