Sara Gardenghi, Maria F. Marongiu, Pedro Ramos, Ella Guy, Laura Breda, Amy Chadburn, YiFang Liu, Ninette Amariglio, Gideon Rechavi, Eliezer A. Rachmilewitz, William Breuer, Z. Ioav Cabantchik, Diedra M. Wrighting, Nancy C. Andrews, Maria de Sousa, Patricia J. Giardina, Robert W. Grady and Stefano Rivella. "Ineffective erythropoiesis in Beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin". Blood, 2007 Jun ;09:5027-35
J. P. Pinto, P. Ramos, S. F. de Almeida, S. Oliveira, L. Breda, M. Michalak, G. Porto, S. Rivella and M. de Sousa Protective role of calreticulin in HFE Hemochromatosis, Free Radical Biology & Medicine, Free Radic Biol Med. 2008 Jan 1;44(1):99-108. Epub 2007 Oct 4.
Gardenghi S, Marongiu MF, Ramos P, Guy E, Breda L, Chadburn A, Liu Y, Amariglio N, Rechavi G, Rachmilewitz EA, Breuer W, Cabantchik ZI, Wrighting DM, Andrews NC, de Sousa M, Giardina PJ, Grady RW, Rivella S. Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin. Blood. 2007 Feb 15; [Epub ahead of print]
Sadelain M, Boulad F, Galanello R, Giardina P, Locatelli F, Maggio A, Rivella S, Riviere I, Tisdale J. Therapeutic options for patients with severe beta-thalassemia: the need for globin gene therapy. Hum Gene Ther. 2007 Jan; 18(1): 1-9.
Weizer-Stern O, Adamsky K, Amariglio N, Levin C, Koren A, Breuer W, Rachmilewitz E, Breda L, Rivella S, Cabantchik ZI, Rechavi. Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera. Br J Haematol. 2006 Oct; 135(1): 129-38.
Weizer-Stern O, Adamsky K, Amariglio N, Rachmilewitz E, Breda L, Rivella S, Rechavi G. mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. Am J Hematol. 2006 Jul; 81(7): 479-83.
Breda L, Gardenghi S, Guy E, Rachmilewitz EA, Weizer-Stern O, Adamsky K, Amariglio N, Rechavi G, Giardina PJ, Grady RW, Rivella S. Exploring the role of hepcidin, an antimicrobial and iron regulatory peptide, in increased iron absorption in beta-thalassemia. Ann N Y Acad Sci. 2005; 1054: 417-22.
Rachmilewitz EA, Weizer-Stern O, Adamsky K, Amariglio N, Rechavi G, Breda L, Rivella S, Cabantchik ZI. Role of iron in inducing oxidative stress in thalassemia: Can it be prevented by inhibition of absorption and by antioxidants? Ann N Y Acad Sci. 2005; 1054: 118-23. Review.
Sadelain M, Lisowski L, Samakoglu S, Rivella S, May C, Riviere I. Progress toward the genetic treatment of the beta-thalassemias. Ann N Y Acad Sci. 2005; 1054: 78-91. Review.
Sadelain M, Rivella S, Lisowski L, Samakoglu S, Riviere I. Globin gene transfer for treatment of the beta-thalassemias and sickle cell disease. Best Pract Res Clin Haematol. 2004 Sep; 17(3): 517-34. Review.
Adamsky K, Weizer O, Amariglio N, Breda L, Harmelin A, Rivella S, Rachmilewitz E, Rechavi G. Decreased hepcidin mRNA expression in thalassemic mice. Br J Haematol. 2004 Jan; 124(1): 123-4.
Breda L. and Rivella S. Development of new mouse models to study globin gene regulation Minerva Biotecnologica, Vol15 (2), June 2003
Rivella S, May C, Chadburn A, Riviere I, Sadelain M. A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer. Blood. 2003 Apr 15; 101(8): 2932-9.
Rivella S, Sadelain M. Therapeutic globin gene delivery using lentiviral vectors. Curr Opin Mol Ther. 2002 Oct; 4(5): 505-14. Review.
May C, Rivella S, Chadburn A, Sadelain M. Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene. Blood. 2002 Mar 15; 99(6): 1902-8.
May C, Rivella S, Callegari J, Heller G, Gaensler KM, Luzzatto L, Sadelain M. Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin. Nature. 2000 Jul 6; 406(6791): 82-6.
Rivella S, Callegari JA, May C, Tan CW, Sadelain M. The cHS4 insulator increases the probability of retroviral expression at random chromosomal integration sites. J Virol. 2000 May; 74(10): 4679-87.
Rivella S, Palermo B, Pelizon C, Sala C, Arrigo G, Toniolo D. Selection and mapping of replication origins from a 500-kb region of the human X chromosome and their relationship to gene expression. Genomics. 1999 Nov 15; 62(1): 11-20.
Sadelain M, May C, Rivella S, Glade Bender J. Related Articles, Basic principles of gene transfer in hematopoietic stem cells. Prog Exp Tumor Res. 1999; 36:1-19. Review.
Rivella S, Sadelain M. Genetic treatment of severe hemoglobinopathies: the combat against transgene variegation and transgene silencing. Semin Hematol. 1998 Apr; 35(2): 112-25. Review,
Mancini M, Sala C, Rivella S, Toniolo D. Selection and fine mapping of chromosome-specific cDNAs: application to human chromosome 1. Genomics. 1996 Dec 1; 38(2): 149-54.
Rivella S, Tamanini F, Bione S, Mancini M, Herman G, Chatterjee A, Maestrini E, Toniolo D. A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics. 1995 Aug 10; 28(3): 377-82.
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4): 323-7.
Tribioli C, Mancini M, Plassart E, Bione S, Rivella S, Sala C, Torri G, Toniolo D. Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae. Hum Mol Genet. 1994 Jul; 3(7): 1061-7.
Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, Chatterjee A, Herman GE, Archidiacono N, Antonacci R, et al. Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics. 1994 May 15; 21(2): 428-30.
Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G, Rivella S, Toniolo D. Related Articles, Links
Free in PMC Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc Natl Acad Sci U S A. 1993 Dec 1; 90(23): 10977-81.
Maestrini E, Patrosso C, Mancini M, Rivella S, Rocchi M, Repetto M, Villa A, Frattini A, Zoppe M, Vezzoni P, et al. Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Hum Mol Genet. 1993 Jun; 2(6): 761-6.
Tribioli C, Tamanini F, Patrosso C, Milanesi L, Villa A, Pergolizzi R, Maestrini E, Rivella S, Bione S, Mancini M, et al. Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. Nucleic Acids Res. 1992 Feb 25; 20(4): 727-33.
Maestrini E, Rivella S, Tribioli C, Rocchi M, Camerino G, Santachiara-Benerecetti S, Parolini O, Notarangelo LD, Toniolo D. Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation. Am J Hum Genet. 1992 Jan; 50(1): 156-63.
Manoni M, Tribioli C, Lazzari B, DeBellis G, Patrosso C, Pergolizzi R, Pellegrini M, Maestrini E, Rivella S, Vezzoni P, et al. The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein lamp2 and assigns the gene to Xq24.
Genomics. 1991 Mar; 9(3): 551-4.
Rousseau F, Vincent A, Rivella S, Heitz D, Triboli C, Maestrini E, Warren ST, Suthers GK, Goodfellow P, Mandel JL, et al. Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA). Am J Hum Genet. 1991 Jan; 48(1): 108-16.
Maestrini E, Rivella S, Tribioli C, Purtilo D, Rocchi M, Archidiacono N, Toniolo D. Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28. Genomics. 1990 Dec; 8(4): 664-70.
Education
B.S.,
University of Pavia (Italy),
1990
Ph.D.,
University of Pavia (Italy),
1999
Appointments
Associate Professor of Genetic Medicine in Pediatrics Weill Cornell Medical College