A
Antonella Roetto
Researcher at University of Turin
Publications - 97
Citations - 6463
Antonella Roetto is an academic researcher from University of Turin. The author has contributed to research in topics: Hemochromatosis & Hepcidin. The author has an hindex of 36, co-authored 91 publications receiving 6012 citations. Previous affiliations of Antonella Roetto include University of California, Los Angeles.
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Journal ArticleDOI
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.
Antonella Roetto,George Papanikolaou,Marianna Politou,Federica Alberti,Domenico Girelli,John Christakis,Dimitris Loukopoulos,Clara Camaschella +7 more
TL;DR: Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals and two mutations in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis are identified.
Journal ArticleDOI
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
Clara Camaschella,Antonella Roetto,Angelita Calı̀,De Gobbi M,Giovanni Garozzo,Massimo Carella,N. Majorano,A. Totaro,Paolo Gasparini +8 more
TL;DR: A homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3 and a new locus (HFE3) is reported on 7q22.
Journal ArticleDOI
Hepcidin is decreased in TFR2 hemochromatosis.
Elizabeta Nemeth,Antonella Roetto,Antonella Roetto,Giovanni Garozzo,Giovanni Garozzo,Tomas Ganz,Tomas Ganz,Clara Camaschella,Clara Camaschella +8 more
TL;DR: Urinary hepcidin was low or undetectable in 8 of 10 cases irrespective of the previous phlebotomy treatments, and data indicate that TFR2 is a modulator of hePCidin production in response to iron.
Journal Article
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
Massimo Carella,L. D'Ambrosio,A. Totaro,Anna Grifa,Maria Assunta Valentino,Alberto Piperno,Domenico Girelli,Antonella Roetto,Brunella Franco,Paolo Gasparini,Clara Camaschella +10 more
TL;DR: It is reported that the Cys282Tyr change accounts for 69% of HH chromosomes in a series of 75 unrelated Italian patients who fulfilled well-defined criteria for HH diagnosis, suggesting that in Italy the disease is more heterogeneous than reported in northern Europe.
Journal ArticleDOI
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
Antonella Roetto,A. Totaro,Alberto Piperno,Antonio Piga,Filomena Longo,Giovanni Garozzo,Angelita Calı̀,Marco De Gobbi,Paolo Gasparini,Clara Camaschella +9 more
TL;DR: The identification of new mutations of TFR2 confirms that this gene is associated with iron overload and offers a tool for molecular diagnosis in patients without HFE mutations.