Antonella Roetto

Summary

Affiliation: University of Turin
Country: Italy

Publications

  1. doi request reprint Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues
    Antonella Roetto
    Department of Clinical and Biological Science, University of Torino, Turin, Italy
    Blood 115:3382-9. 2010
  2. ncbi request reprint Hemochromatosis due to mutations in transferrin receptor 2
    Antonella Roetto
    Department of Clinical and Biological Sciences, University of Turin, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
    Blood Cells Mol Dis 29:465-70. 2002
  3. ncbi request reprint Pathogenesis of hyperferritinemia cataract syndrome
    Antonella Roetto
    Department of Clinical and Biological Sciences, University of Turin, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
    Blood Cells Mol Dis 29:532-5. 2002
  4. ncbi request reprint Hepatic expression of hemochromatosis genes in two mouse strains after phlebotomy and iron overload
    Alessandro Bondi
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi, Orbassano, Turin, Italy
    Haematologica 90:1161-7. 2005
  5. pmc Deferasirox is a powerful NF-kappaB inhibitor in myelodysplastic cells and in leukemia cell lines acting independently from cell iron deprivation by chelation and reactive oxygen species scavenging
    Emanuela Messa
    Department of Clinical and Biological Sciences, San Luigi Hospital, University of Turin, Regione Gonzole 10, 10043 Orbassano, Torino, Italy
    Haematologica 95:1308-16. 2010
  6. ncbi request reprint Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)
    Antonella Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Turin, Italy
    Blood 103:2407-9. 2004
  7. ncbi request reprint Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    Antonella Roetto
    Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy
    Nat Genet 33:21-2. 2003
  8. ncbi request reprint New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis
    Antonella Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi Gonzaga, Regione Gonzole, 10, 10043 Orbassano, Torino, Italy
    Best Pract Res Clin Haematol 18:235-50. 2005
  9. ncbi request reprint Genetic haemochromatosis: genes and mutations associated with iron loading
    Clara Camaschella
    Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera San Luigi, Universita di Torino, 10043 Orbassano Turin, Italy
    Best Pract Res Clin Haematol 15:261-76. 2002
  10. ncbi request reprint Commentary: Juvenile hemochromatosis in a Spanish family (by Montes-Cano et al.)
    Clara Camaschella
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi Gonzaga, 10143 Orbassano, Turin, Italy
    Blood Cells Mol Dis 29:83-4; author reply 85. 2002

Collaborators

  • Clara Camaschella
  • Alberto Piperno
  • Mario Cazzola
  • Mario Rizzetto
  • Fulvio Riondato
  • Silvia Fargion
  • Dimitris Loukopoulos
  • D Cilloni
  • E Hirsch
  • Domenico Girelli
  • T M Cox
  • Ferdinando Di Cunto
  • Graça Porto
  • Jennifer J Pointon
  • Elizabeta Nemeth
  • Rosa Lacerda
  • Paolo Arosio
  • Antoni Piga
  • Tomas Ganz
  • Filomena Daraio
  • Sonia Carturan
  • Emanuela Messa
  • Marco De Gobbi
  • Melania Serra
  • Carmela Lanzara
  • Paolo Gasparini
  • Giuseppe Saglio
  • Ilaria Defilippi
  • Enrico Bracco
  • Francesca Arruga
  • Antonia Rotolo
  • Francesca Messa
  • Paolo Nicoli
  • Lucia De Franceschi
  • Roberto Miniero
  • Alessandro Bondi
  • Anne Paule Gimenez-Roqueplo
  • Giorgio Biasiotto
  • Mounir Filali
  • Romina Ficarella
  • Hervey Simard
  • Sylvain R Rivard
  • Sandra Bosio
  • Alessandro Sandri
  • Filomena Longo
  • Elisabetta Greco
  • Daniele Alberti
  • Chiara Maffè
  • Marisa Pautasso
  • Rosa M Pellegrino
  • Chiara Zanone
  • Valentina Rosso
  • Ilaria Iacobucci
  • Eva Maria Muchitsch
  • Alida Filippini
  • Enrico Gottardi
  • Paola Valentino
  • Irene Tardivo
  • Enrico Gramaglia
  • Paolo Porporato
  • Patrick Bruneval
  • Xavier Jeunemaitre
  • Laura Cremonesi
  • Stefano Volinia
  • Gian Mario Gerardi
  • Eric Durand
  • Anna Polotti
  • Claire Le Jeunne
  • Paola Grammatico
  • Silvain Rivard
  • Jean Michel Grinda
  • Marc de Braekeleer
  • Claude Ferec
  • Cathrine Mura
  • Lucien Bechner
  • Adamo Pio d'Adamo
  • Raynald Simard
  • Massimo Carella
  • Doria Grimard
  • Gillian Lockitch
  • George Papanikolaou
  • Ubaldo Bonuccelli
  • Federica Alberti
  • Lucia Petrozzi
  • Gabriella Zecchina
  • Raffaella Mariani
  • Marianna Politou
  • Eugenio Leonardo
  • Claudio Lucetti

Detail Information

Publications27

  1. doi request reprint Comparison of 3 Tfr2-deficient murine models suggests distinct functions for Tfr2-alpha and Tfr2-beta isoforms in different tissues
    Antonella Roetto
    Department of Clinical and Biological Science, University of Torino, Turin, Italy
    Blood 115:3382-9. 2010
    ..Our results strengthen the function of hepatic alpha-Tfr2 in hepcidin activation, suggest a role for extrahepatic Tfr2 and indicate that beta-Tfr2 may specifically control spleen iron efflux...
  2. ncbi request reprint Hemochromatosis due to mutations in transferrin receptor 2
    Antonella Roetto
    Department of Clinical and Biological Sciences, University of Turin, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
    Blood Cells Mol Dis 29:465-70. 2002
    ..Although the rarity of TFR2 mutations limits their usefulness in diagnostic/screening programs, their study can contribute to a better understanding of the protein function...
  3. ncbi request reprint Pathogenesis of hyperferritinemia cataract syndrome
    Antonella Roetto
    Department of Clinical and Biological Sciences, University of Turin, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
    Blood Cells Mol Dis 29:532-5. 2002
    ..These findings suggest that, besides the L-ferritin IRE genotype, additional factors are likely to modulate the lens involvement and the rate of progression to severe cataract in HHCS patients...
  4. ncbi request reprint Hepatic expression of hemochromatosis genes in two mouse strains after phlebotomy and iron overload
    Alessandro Bondi
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi, Orbassano, Turin, Italy
    Haematologica 90:1161-7. 2005
    ..In order to gain insights into the molecular relationship among the HH proteins we evaluated the hepatic expression of HH genes in conditions of iron restriction or overload...
  5. pmc Deferasirox is a powerful NF-kappaB inhibitor in myelodysplastic cells and in leukemia cell lines acting independently from cell iron deprivation by chelation and reactive oxygen species scavenging
    Emanuela Messa
    Department of Clinical and Biological Sciences, San Luigi Hospital, University of Turin, Regione Gonzole 10, 10043 Orbassano, Torino, Italy
    Haematologica 95:1308-16. 2010
    ..Nuclear factor-kappaB is a key regulator of many cellular processes and its impaired activity has been described in different myeloid malignancies including myelodysplastic syndromes...
  6. ncbi request reprint Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R)
    Antonella Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Turin, Italy
    Blood 103:2407-9. 2004
    ..We identified a new mutation (C70R), which affects 1 of the 8 conserved cysteines that form the disulfide bonds and are critical for the stability of the polypeptide...
  7. ncbi request reprint Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    Antonella Roetto
    Department of Clinical and Biological Sciences, University of Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Torino, Italy
    Nat Genet 33:21-2. 2003
    ..Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis...
  8. ncbi request reprint New insights into iron homeostasis through the study of non-HFE hereditary haemochromatosis
    Antonella Roetto
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi Gonzaga, Regione Gonzole, 10, 10043 Orbassano, Torino, Italy
    Best Pract Res Clin Haematol 18:235-50. 2005
    ..This finding indicates a fundamental role of hepcidin in inhibiting both iron absorption from duodenal cells and iron release from macrophages, and has opened up a new view of haemochromatosis as a disorder of hepcidin...
  9. ncbi request reprint Genetic haemochromatosis: genes and mutations associated with iron loading
    Clara Camaschella
    Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera San Luigi, Universita di Torino, 10043 Orbassano Turin, Italy
    Best Pract Res Clin Haematol 15:261-76. 2002
    ..The identification of all of the genes associated with haemochromatosis is critical for molecular-based diagnosis and central to our understanding of the regulation of iron homeostasis...
  10. ncbi request reprint Commentary: Juvenile hemochromatosis in a Spanish family (by Montes-Cano et al.)
    Clara Camaschella
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi Gonzaga, 10143 Orbassano, Turin, Italy
    Blood Cells Mol Dis 29:83-4; author reply 85. 2002
  11. pmc A child with hyperferritinemia: case report
    Melania Serra
    Division of Pediatrics and Thalassemia Center, Department of Clinical and Biological Sciences, University of Torino, S, Luigi Gonzaga Hospital, Orbassano TO, 10043, Italy
    Ital J Pediatr 37:20. 2011
    ....
  12. ncbi request reprint Heterozygous beta-thalassemia and homozygous H63D hemochromatosis in a child: an 18-year follow-up
    Roberto Miniero
    Department of Clinical and Biological Sciences, Department of Clinical and Biological Sciences, Orbassano TO Italy
    Pediatr Hematol Oncol 22:163-6. 2005
    ....
  13. ncbi request reprint Juvenile hemochromatosis
    Clara Camaschella
    Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
    Semin Hematol 39:242-8. 2002
    ..The severity and the early expression of juvenile hemochromatosis suggest that the gene product has a crucial role in the regulation of iron homeostasis...
  14. ncbi request reprint Anemia and iron overload due to compound heterozygosity for novel ceruloplasmin mutations
    Sandra Bosio
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
    Blood 100:2246-8. 2002
    ..We propose that anemia, secondary to the impaired macrophage iron release, plays a major role in hepatic iron overload through increased absorption mediated by the erythroid regulator...
  15. ncbi request reprint Natural history of juvenile haemochromatosis
    Marco De Gobbi
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy
    Br J Haematol 117:973-9. 2002
    ..Our results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis-associated genes...
  16. doi request reprint Detection of humoral immune responses against WT1 antigen in patients affected by different hematological malignancies
    Paolo Nicoli
    Department of Clinical and Biological Sciences, University of Turin, Turin, Italy
    Acta Haematol 120:47-50. 2008
  17. ncbi request reprint Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele
    Giorgio Biasiotto
    Dipartimento Materno Infantile e Tecnologie Biomediche, Universita di Brescia, A O Spedali Civili, Brescia, Italy
    Blood Cells Mol Dis 33:338-43. 2004
    ..However, they are rare and explain only a minor portion of the variable penetrance of the disorder...
  18. ncbi request reprint A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4
    Antonella Roetto
    Blood 100:733-4. 2002
  19. ncbi request reprint Juvenile hemochromatosis HJV-related revealed by cardiogenic shock
    Mounir Filali
    Département de Génétique Moléculaire, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
    Blood Cells Mol Dis 33:120-4. 2004
    ..This observation underlines the importance of HJV genetic testing, by complete screening of the gene, in young patients with abnormal iron parameters and hypogonadism and/or cardiac symptoms to prevent death from cardiac complications...
  20. ncbi request reprint Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload
    Alberto Piperno
    Haematologica 89:359-60. 2004
    ..They both carried the Y250X mutation of the TFR2 gene in the homozygous state. We suggest that transferrin receptor-2 is important in maintaining iron balance in the first decades of life...
  21. ncbi request reprint Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    Carmela Lanzara
    Dipartimento di Patologia Generale, II Universita di Napoli, Italy
    Blood 103:4317-21. 2004
    ..Mutations either generate premature termination codons or were missense substitutions, affecting highly conserved residues, relevant to the protein structure and/or function...
  22. ncbi request reprint Hepcidin is decreased in TFR2 hemochromatosis
    Elizabeta Nemeth
    Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Blood 105:1803-6. 2005
    ..The only 2 cases with normal hepcidin values had concomitant inflammatory conditions. Our data indicate that TFR2 is a modulator of hepcidin production in response to iron...
  23. ncbi request reprint Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
    Sylvain R Rivard
    SAGEN PHARMA, 1381 rue Adélard Plourde, Ville de Saguenay, Quebec, Canada
    Eur J Hum Genet 11:585-9. 2003
    ..02 was observed with marker D1S2344. A common ancestral haplotype, showing the presence of a founder effect, was identified. The analysis of recombinants allowed us to confirm the JH candidate region...
  24. ncbi request reprint Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia
    Lucia De Franceschi
    Dipartimento di Medicina Clinica e Sperimentale, Sezione di Medicina Interna Università di Verona, Verona, Italy
    Haematologica 91:1336-42. 2006
    ..Reduction of hepcidin synthesis has been reported both in patients and in animal models. We have measured liver hepcidin and other iron gene transcripts in two different mouse models of beta-thalassemia at different ages...
  25. ncbi request reprint A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron
    Graça Porto
    Blood 106:2922-3. 2005
  26. ncbi request reprint Growth hormone (GH)-induced reconstitution of CD8+ CD28+ T lymphocytes in a rare case of severe lymphopenia associated with Juvenile Haemochromatosis and Turner's syndrome
    Graça Porto
    Santo Antonio General Hospital, Porto, Portugal
    Clin Endocrinol (Oxf) 61:437-40. 2004
    ....
  27. ncbi request reprint Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
    Domenico Girelli
    Department of Clinical and Experimental Medicine, University of Verona, Verona, Italy
    Gastroenterology 122:1295-302. 2002
    ..Here we report data from a family carrying a new mutation of the transferrin receptor 2 gene...