List of works - Stefano Rivella

A Red Carpet for Iron Metabolism.

scientific article published on January 2017

A combined approach for β-thalassemia based on gene therapy-mediated adult hemoglobin (HbA) production and fetal hemoglobin (HbF) induction

scientific article published on 31 March 2012

A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer

scientific article published on 12 December 2002

A preclinical approach for gene therapy of beta-thalassemia.

scientific article published on August 2010

A validated cellular biobank for β-thalassemia

scientific article published on 02 September 2016

Altered erythropoiesis and iron metabolism in carriers of thalassemia

scientific article

Alternative splicing of EKLF/KLF1 in murine primary erythroid tissues

scientific article

Analysis of alpha hemoglobin stabilizing protein overexpression in murine β-thalassemia

scientific article published on October 2010

Anemia, ineffective erythropoiesis, and hepcidin: interacting factors in abnormal iron metabolism leading to iron overload in β-thalassemia

scientific article published on 15 October 2010

Basic principles of gene transfer in hematopoietic stem cells.

scientific article

Cancer cells with irons in the fire

scientific article

Changes in bone microarchitecture and biomechanical properties in the th3 thalassemia mouse are associated with decreased bone turnover and occur during the period of bone accrual.

scientific article

Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia

scientific article published on 24 September 2015

Combining gene therapy and fetal hemoglobin induction for treatment of β-thalassemia ⬇️

scientific article published on June 1, 2013

Comparative mapping of the actin-binding protein 280 genes in human and mouse

scientific article

Crosstalk between Erythropoiesis and Iron Metabolism

scientific article

Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia

scientific article published on 14 May 2008

Decreased hepcidin expression in murine β-thalassemia is associated with suppression of Bmp/Smad signaling

scientific article published on 01 March 2012

Decreased hepcidin mRNA expression in thalassemic mice

scientific article published on 01 January 2004

Decreasing TfR1 expression reverses anemia and hepcidin suppression in β-thalassemic mice

scientific article

Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations

scientific article published on 9 July 2009

Distinct roles for hepcidin and interleukin-6 in the recovery from anemia in mice injected with heat-killed Brucella abortus

scientific journal article

Do not super-excess me!

scientific article published on May 2012

Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera.

scientific article published on 25 August 2006

Efficacy and safety of ruxolitinib in regularly transfused patients with thalassemia: results from a phase 2a study

scientific article published on 2 November 2017

Enucleate or replicate? Ask the cytoskeleton.

scientific article published on January 2014

Exploring the role of hepcidin, an antimicrobial and iron regulatory peptide, in increased iron absorption in beta-thalassemia

scientific article published on January 2005

FGF-23 is a negative regulator of prenatal and postnatal erythropoiesis

scientific article published on 07 February 2014

FOXO3-mTOR metabolic cooperation in the regulation of erythroid cell maturation and homeostasis.

scientific article

Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers

scientific article published on 12 July 2016

Gene Addition Strategies for β-Thalassemia and Sickle Cell Anemia

scientific article published in January 2017

Gene therapy for hemoglobinopathies: progress and challenges ⬇️

scientific article published on January 19, 2013

Gene therapy in thalassemia and hemoglobinopathies.

scientific article

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.

scientific article published on 4 May 2015

Genetic treatment of severe hemoglobinopathies: the combat against transgene variegation and transgene silencing.

scientific article published on April 1998

HMGB1 mediates anemia of inflammation in murine sepsis survivors.

scientific article published on 29 December 2015

Hepcidin agonists as therapeutic tools.

scientific article published on 9 March 2018

Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice

scientific article

Hepcidin inhibits Smad3 phosphorylation in hepatic stellate cells by impeding ferroportin-mediated regulation of Akt.

scientific article published on 22 December 2016

Hepcidin is regulated by promoter-associated histone acetylation and HDAC3.

scientific article published on September 2017

Id1 represses osteoclast-dependent transcription and affects bone formation and hematopoiesis

scientific article

Identification and characterization of small molecules that inhibit nonsense-mediated RNA decay and suppress nonsense p53 mutations

scientific article

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

scientific article

Identification of erythroferrone as an erythroid regulator of iron metabolism

scientific article (publication date: July 2014)

Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation ⬇️

scientific article published on January 1, 1992

In vivo gene transfer strategies to achieve partial correction of von Willebrand disease.

scientific article

In vivo hematopoietic stem cell modification by mRNA delivery

scientific article published on 27 July 2023

Increased hepcidin in transferrin-treated thalassemic mice correlates with increased liver BMP2 expression and decreased hepatocyte ERK activation

scientific article

Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin

scientific article published on 13 February 2007

Intestinal HIF2α promotes tissue-iron accumulation in disorders of iron overload with anemia

scientific article

Intestine-specific Disruption of Hypoxia-inducible Factor (HIF)-2α Improves Anemia in Sickle Cell Disease.

scientific article

Iron age: novel targets for iron overload

scientific article

Iron and reactive oxygen species: friends or foes of cancer cells?

scientific article published on 15 January 2013

Iron metabolism and ineffective erythropoiesis in beta-thalassemia mouse models

scientific article

Iron metabolism under conditions of ineffective erythropoiesis in beta-thalassemia

scientific article published on 06 November 2018

Isocitrate ameliorates anemia by suppressing the erythroid iron restriction response

scientific article

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae

scientific article

Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of β-thalassemia

scientific article published on 31 May 2019

Lack of hepcidin ameliorates anemia and improves growth in an adenine-induced mouse model of chronic kidney disease

scientific article published on 20 July 2016

Lobe specificity of iron binding to transferrin modulates murine erythropoiesis and iron homeostasis

scientific article published on 01 October 2019

Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7

scientific article

Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera

scientific article published on 06 May 2016

Modified activin receptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine β-thalassemia

scientific article

Modulators of erythropoiesis: emerging therapies for hemoglobinopathies and disorders of red cell production.

scientific article published on 18 January 2014

Myeloid cell-derived hypoxia-inducible factor attenuates inflammation in unilateral ureteral obstruction-induced kidney injury

scientific article

New strategies to target iron metabolism for the treatment of beta thalassemia

scientific article published on 25 February 2016

Non-transfusion-dependent thalassemias ⬇️

scientific article published on June 1, 2013

Polycythemia is associated with bone loss and reduced osteoblast activity in mice.

scientific article published on 09 December 2015

Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28.

scientific article published on December 1990

Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients

scientific article published on November 2009

Progress toward the genetic treatment of the beta-thalassemias.

scientific article

Prospects for a hepcidin mimic to treat β-thalassemia and hemochromatosis

scientific article published on 01 June 2011

Protective role of calreticulin in HFE hemochromatosis

scientific article published on 4 October 2007

RBCs Homeostatically Bind mtDNA Through TLR9 to Maintain Quiescence and Prevent Lung Injury

scientific article

Reactivation of developmentally silenced globin genes by forced chromatin looping.

scientific article

Recent trends in the gene therapy of β-thalassemia

scientific article

Recommendations regarding splenectomy in hereditary hemolytic anemias.

scientific article published on 26 May 2017

Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in mice ⬇️

scientific article published on March 25, 2013

Regulation of iron absorption in hemoglobinopathies.

scientific article

Selection and fine mapping of chromosome-specific cDNAs: application to human chromosome 1.

scientific article published on December 1996

Selection and mapping of replication origins from a 500-kb region of the human X chromosome and their relationship to gene expression

scientific article published in November 1999

Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of β-thalassemia intermedia and major

scientific article published on 2 November 2017

Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene

scientific article published on 01 March 2002

Targeting iron metabolism in drug discovery and delivery

scientific article

The cHS4 insulator increases the probability of retroviral expression at random chromosomal integration sites.

scientific article published on May 2000

The murine growth differentiation factor 15 is not essential for systemic iron homeostasis in phlebotomized mice.

scientific article published on 14 September 2012

The role of ineffective erythropoiesis in non-transfusion-dependent thalassemia ⬇️

scientific article published on April 1, 2012

Therapeutic globin gene delivery using lentiviral vectors.

scientific article

Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin

scientific article published on July 2000

Therapeutic hemoglobin levels after gene transfer in β-thalassemia mice and in hematopoietic cells of β-thalassemia and sickle cells disease patients

scientific article (publication date: 2012)

Tropomodulin 1 controls erythroblast enucleation via regulation of F-actin in the enucleosome

scientific article published on 20 July 2017

Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells

scientific article

What can we learn from ineffective erythropoiesis in thalassemia?

scientific article published on 3 October 2017

beta-Thalassemia: HiJAKing Ineffective Erythropoiesis and Iron Overload

scientific article published on 19 May 2010

mRNA expression of iron regulatory genes in β-thalassemia intermedia and β-thalassemia major mouse models

article

β-Thalassemia and Polycythemia vera: targeting chronic stress erythropoiesis.

scientific article

β-thalassemia: a model for elucidating the dynamic regulation of ineffective erythropoiesis and iron metabolism ⬇️

scientific article published on July 18, 2011

β-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

scientific article

List of works by Stefano Rivella

A Red Carpet for Iron Metabolism.

A combined approach for β-thalassemia based on gene therapy-mediated adult hemoglobin (HbA) production and fetal hemoglobin (HbF) induction

A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer

A preclinical approach for gene therapy of beta-thalassemia.

A validated cellular biobank for β-thalassemia

Altered erythropoiesis and iron metabolism in carriers of thalassemia

Alternative splicing of EKLF/KLF1 in murine primary erythroid tissues

Analysis of alpha hemoglobin stabilizing protein overexpression in murine β-thalassemia

Anemia, ineffective erythropoiesis, and hepcidin: interacting factors in abnormal iron metabolism leading to iron overload in β-thalassemia

Basic principles of gene transfer in hematopoietic stem cells.

Cancer cells with irons in the fire

Changes in bone microarchitecture and biomechanical properties in the th3 thalassemia mouse are associated with decreased bone turnover and occur during the period of bone accrual.

Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia

Combining gene therapy and fetal hemoglobin induction for treatment of β-thalassemia ⬇️

Comparative mapping of the actin-binding protein 280 genes in human and mouse

Crosstalk between Erythropoiesis and Iron Metabolism

Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia

Decreased hepcidin expression in murine β-thalassemia is associated with suppression of Bmp/Smad signaling

Decreased hepcidin mRNA expression in thalassemic mice

Decreasing TfR1 expression reverses anemia and hepcidin suppression in β-thalassemic mice

Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations

Distinct roles for hepcidin and interleukin-6 in the recovery from anemia in mice injected with heat-killed Brucella abortus

Do not super-excess me!

Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera.

Efficacy and safety of ruxolitinib in regularly transfused patients with thalassemia: results from a phase 2a study

Enucleate or replicate? Ask the cytoskeleton.

Exploring the role of hepcidin, an antimicrobial and iron regulatory peptide, in increased iron absorption in beta-thalassemia

FGF-23 is a negative regulator of prenatal and postnatal erythropoiesis

FOXO3-mTOR metabolic cooperation in the regulation of erythroid cell maturation and homeostasis.

Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers

Gene Addition Strategies for β-Thalassemia and Sickle Cell Anemia

Gene therapy for hemoglobinopathies: progress and challenges ⬇️

Gene therapy in thalassemia and hemoglobinopathies.

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.

Genetic treatment of severe hemoglobinopathies: the combat against transgene variegation and transgene silencing.

HMGB1 mediates anemia of inflammation in murine sepsis survivors.

Hepcidin agonists as therapeutic tools.

Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice

Hepcidin inhibits Smad3 phosphorylation in hepatic stellate cells by impeding ferroportin-mediated regulation of Akt.

Hepcidin is regulated by promoter-associated histone acetylation and HDAC3.

Id1 represses osteoclast-dependent transcription and affects bone formation and hematopoiesis

Identification and characterization of small molecules that inhibit nonsense-mediated RNA decay and suppress nonsense p53 mutations

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Identification of erythroferrone as an erythroid regulator of iron metabolism

Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation ⬇️

In vivo gene transfer strategies to achieve partial correction of von Willebrand disease.

In vivo hematopoietic stem cell modification by mRNA delivery

Increased hepcidin in transferrin-treated thalassemic mice correlates with increased liver BMP2 expression and decreased hepatocyte ERK activation

Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin

Intestinal HIF2α promotes tissue-iron accumulation in disorders of iron overload with anemia

Intestine-specific Disruption of Hypoxia-inducible Factor (HIF)-2α Improves Anemia in Sickle Cell Disease.

Iron age: novel targets for iron overload

Iron and reactive oxygen species: friends or foes of cancer cells?

Iron metabolism and ineffective erythropoiesis in beta-thalassemia mouse models

Iron metabolism under conditions of ineffective erythropoiesis in beta-thalassemia

Isocitrate ameliorates anemia by suppressing the erythroid iron restriction response

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae

Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of β-thalassemia

Lack of hepcidin ameliorates anemia and improves growth in an adenine-induced mouse model of chronic kidney disease

Lobe specificity of iron binding to transferrin modulates murine erythropoiesis and iron homeostasis

Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7

Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera

Modified activin receptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine β-thalassemia

Modulators of erythropoiesis: emerging therapies for hemoglobinopathies and disorders of red cell production.

Myeloid cell-derived hypoxia-inducible factor attenuates inflammation in unilateral ureteral obstruction-induced kidney injury

New strategies to target iron metabolism for the treatment of beta thalassemia

Non-transfusion-dependent thalassemias ⬇️

Polycythemia is associated with bone loss and reduced osteoblast activity in mice.

Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28.

Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients

Progress toward the genetic treatment of the beta-thalassemias.

Prospects for a hepcidin mimic to treat β-thalassemia and hemochromatosis

Protective role of calreticulin in HFE hemochromatosis

RBCs Homeostatically Bind mtDNA Through TLR9 to Maintain Quiescence and Prevent Lung Injury

Reactivation of developmentally silenced globin genes by forced chromatin looping.

Recent trends in the gene therapy of β-thalassemia

Recommendations regarding splenectomy in hereditary hemolytic anemias.

Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in mice ⬇️

Regulation of iron absorption in hemoglobinopathies.