Stefano Rivella
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View article: Norad long noncoding RNA, a decoy for pumilio RNA-binding proteins, elevates fetal hemoglobin levels
Norad long noncoding RNA, a decoy for pumilio RNA-binding proteins, elevates fetal hemoglobin levels Open
NORAD long noncoding RNA (Noncoding RNA activated by DNA Damage) is a highly conserved, abundant, and widely expressed long non-coding RNA (lncRNA) in mammals. NORAD contains 20 Pumilio recognition elements (PREs), which are binding sites …
View article: Luspatercept: known and unknown promises
Luspatercept: known and unknown promises Open
View article: Assessing the safety of gene therapy vectors expressing an enhanced gamma-globin gene for the cure of sickle cell anemia
Assessing the safety of gene therapy vectors expressing an enhanced gamma-globin gene for the cure of sickle cell anemia Open
View article: Selecting patients with sickle cell disease for gene addition or gene editing‐based therapeutic approaches: Report on behalf of a joint EHA Specialized Working Group and EBMT Hemoglobinopathies Working Party consensus conference
Selecting patients with sickle cell disease for gene addition or gene editing‐based therapeutic approaches: Report on behalf of a joint EHA Specialized Working Group and EBMT Hemoglobinopathies Working Party consensus conference Open
Sickle cell disease (SCD) remains associated with reduced life expectancy and poor quality of life despite improvements observed in the last decades mostly related to comprehensive care, use of hydroxycarbamide, screening to identify patie…
View article: Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations
Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations Open
Metachromatic leukodystrophy (MLD) is a fatal lysosomal storage disease characterized by the deficient enzymatic activity of arylsulfatase A (ARSA). Combined autologous hematopoietic stem cell transplantion (HSCT) with lentiviral (LV)-base…
View article: Restoring hematopoietic stem and progenitor cell function in Fancc mice by in situ delivery of RNA lipid nanoparticles
Restoring hematopoietic stem and progenitor cell function in Fancc mice by in situ delivery of RNA lipid nanoparticles Open
Fanconi anemia (FA) is a congenital multisystem disorder characterized by early-onset bone marrow failure (BMF) and cancer susceptibility. While ex vivo gene addition and repair therapies are being considered as treatment options, d…
View article: Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency Open
Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor formylglycine-generating enzyme. Patients with MSD exhibit functional defi…
View article: Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations Open
Metachromatic leukodystrophy (MLD) is a fatal lysosomal storage disease (LSD) characterized by the deficient enzymatic activity of arylsulfatase A (ARSA). Combined autologous hematopoietic stem cell transplant (HSCT) with lentiviral (LV) b…
View article: Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency Open
Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor formylglycine-generating enzyme. Patients with MSD exhibit functional defi…
View article: Optimizing lentiviral genomic integrations to cure beta-thalassemia: The least required for success?
Optimizing lentiviral genomic integrations to cure beta-thalassemia: The least required for success? Open
Gene addition by ex vivo lentiviral transduction of a curative beta-globin gene into hematopoietic stem cells of patients suffering from blood transfusion-dependent beta-thalassemia (TDT) has successfully treated several patients.1Locatell…
View article: Iron restriction in sickle cell disease: When less is more
Iron restriction in sickle cell disease: When less is more Open
Primum non nocere! Can iron deficiency, an abnormality that causes anemia, benefit people with sickle cell disease (SCD) who already have an anemia? The published literature we review appears to answer this question in the affirmative: bas…
View article: Elevated CDKN1A (P21) mediates β-thalassemia erythroid apoptosis, but its loss does not improve β-thalassemic erythropoiesis
Elevated CDKN1A (P21) mediates β-thalassemia erythroid apoptosis, but its loss does not improve β-thalassemic erythropoiesis Open
β-thalassemias are common hemoglobinopathies due to mutations in the β-globin gene that lead to hemolytic anemias. Premature death of β-thalassemic erythroid precursors results in ineffective erythroid maturation, increased production of e…
View article: Normal and dysregulated crosstalk between iron metabolism and erythropoiesis
Normal and dysregulated crosstalk between iron metabolism and erythropoiesis Open
Erythroblasts possess unique characteristics as they undergo differentiation from hematopoietic stem cells. During terminal erythropoiesis, these cells incorporate large amounts of iron in order to generate hemoglobin and ultimately underg…
View article: In vivo hematopoietic stem cell modification by mRNA delivery
In vivo hematopoietic stem cell modification by mRNA delivery Open
Hematopoietic stem cells (HSCs) are the source of all blood cells over an individual’s lifetime. Diseased HSCs can be replaced with gene-engineered or healthy HSCs through HSC transplantation (HSCT). However, current protocols carry major …
View article: Novel potential therapeutics to modify iron metabolism and red cell synthesis in diseases associated with defective erythropoiesis
Novel potential therapeutics to modify iron metabolism and red cell synthesis in diseases associated with defective erythropoiesis Open
Under normal conditions, iron metabolism is carefully regulated to sustain normal cellular functions and the production of hemoglobin in erythroid cells. Perturbation to the erythropoiesis-iron metabolism axis can result in iron imbalances…
View article: Protocol for a high titer of BaEV-Rless pseudotyped lentiviral vector: Focus on syncytium formation and detachment
Protocol for a high titer of BaEV-Rless pseudotyped lentiviral vector: Focus on syncytium formation and detachment Open
The development of hematopoietic stem cell (HSCs) gene therapy for DNA repair disorders, such as Fanconi anemia and Bloom syndrome, is challenging because of the induction of HSCs apoptosis by cytokine stimulation. Although the Baboon enve…
View article: TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron Homeostasis
TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron Homeostasis Open
View article: Emergent treatments for β-thalassemia and orphan drug legislations
Emergent treatments for β-thalassemia and orphan drug legislations Open
In many countries, β-thalassemia (β-THAL) is not uncommon; however, it qualifies as a rare disease in the US and in European Union (EU), where thalassemia drugs are eligible for Orphan Drug Designation (ODD). In this paper, we evaluate all…
View article: <i>Transferrin receptor 2 (Tfr2)</i> genetic deletion makes transfusion‐independent a murine model of transfusion‐dependent β‐thalassemia
<i>Transferrin receptor 2 (Tfr2)</i> genetic deletion makes transfusion‐independent a murine model of transfusion‐dependent β‐thalassemia Open
β‐thalassemia is a genetic disorder caused by mutations in the β‐globin gene, and characterized by anemia, ineffective erythropoiesis and iron overload. Patients affected by the most severe transfusion‐dependent form of the disease (TDT) r…
View article: P1520: AN ACTIVIN RECEPTOR IIB LIGAND TRAP, IN COMBINATION WITH TMPRSS6 INDUCED IRON-RESTRICTION, IS A SUPERIOR TREATMENT FOR CORRECTING Β-THALASSEMIA IN MICE
P1520: AN ACTIVIN RECEPTOR IIB LIGAND TRAP, IN COMBINATION WITH TMPRSS6 INDUCED IRON-RESTRICTION, IS A SUPERIOR TREATMENT FOR CORRECTING Β-THALASSEMIA IN MICE Open
Background: The hallmarks of β-thalassemia (BT) include ineffective erythropoiesis (IE), splenomegaly and iron overload (IO). There are several new promising therapetutics to treat BT under clinical investigation. One strategy employs iron…
View article: P1521: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH
P1521: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH Open
Background: Clinical presentation of deletional a-thal varies from an asymptomatic condition (one inactivated a-globin gene) to a complete knockout (Hb Bart’s Hydrops Fetalis). In patients with severe a-thal, a blood transfusion independen…
View article: P1509: BONE MARROW TFR2 GENETIC DELETION ABROGATES BLOOD TRANFUSION REQUIREMENT IN THE HBBTH1/TH2 Β-THALASSEMIC MURINE MODEL
P1509: BONE MARROW TFR2 GENETIC DELETION ABROGATES BLOOD TRANFUSION REQUIREMENT IN THE HBBTH1/TH2 Β-THALASSEMIC MURINE MODEL Open
Background: β-thalassemia is a genetic disorder caused by mutations in the β-globin gene, characterized by anemia, due to defective production of hemoglobin (Hb) and red blood cells (RBC), ineffective erythropoiesis (IE) and iron overload,…
View article: S104: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH
S104: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH Open
Background: Clinical presentation of deletional a-thal varies from an asymptomatic condition (one inactivated a-globin gene) to a complete knockout (Hb Bart’s Hydrops Fetalis). In patients with severe a-thal, a blood transfusion independen…
View article: S102: OBLIGATE N-TERMINAL BUT NOT C-TERMINAL MONOFERRIC TRANSFERRIN AMELIORATES ANEMIA IN β-THALASSEMIC MICE
S102: OBLIGATE N-TERMINAL BUT NOT C-TERMINAL MONOFERRIC TRANSFERRIN AMELIORATES ANEMIA IN β-THALASSEMIC MICE Open
Transferrin (TF) is a bilobed 80kD glycoprotein with N- and C-lobe iron binding sites. TF circulates as four forms: unbound to iron (apo-TF), iron bound to the N-lobe (monoferric N-TF), the C-lobe (monoferric C-TF), or to both lobes (difer…
View article: S101: COMBINATION OF A LUSPATERCEPT-LIKE DRUG (RAP-GRL) AND TMPRSS6-ASO IS SUPERIOR TO EITHER DRUG ALONE FOR CORRECTING β-THALASSEMIA
S101: COMBINATION OF A LUSPATERCEPT-LIKE DRUG (RAP-GRL) AND TMPRSS6-ASO IS SUPERIOR TO EITHER DRUG ALONE FOR CORRECTING β-THALASSEMIA Open
The hallmarks of β-thalassemia (BT) include ineffective erythropoiesis (IE), splenomegaly and iron overload (IO). Recent studies have pointed to iron restriction (IR) to improve both anemia and IO in BT (Rivella, 2019). The decrease of iro…
View article: Tmprss6-ASO as a tool for the treatment of Polycythemia Vera mice
Tmprss6-ASO as a tool for the treatment of Polycythemia Vera mice Open
Polycythemia Vera (PV) is a chronic myeloproliferative neoplasm resulting from an acquired driver mutation in the JAK2 gene of hematopoietic stem and progenitor cells resulting in the overproduction of mature erythrocytes and abnormally hi…
View article: DNA binding to TLR9 expressed by red blood cells promotes innate immune activation and anemia
DNA binding to TLR9 expressed by red blood cells promotes innate immune activation and anemia Open
Red blood cells detect and bind cell-free nucleic acids, contributing to anemia and immune cell activation during acute inflammation.
View article: The EHA Research Roadmap: Anemias
The EHA Research Roadmap: Anemias Open
In 2016, the European Hematology Association (EHA) published the EHA Roadmap for European Hematology Research1 aiming to highlight achievements in the diagnostics and treatment of blood disorders, and to better inform European policy maker…
View article: Inclusion of a short hairpin RNA targeting <i>BCL11A</i> into a β-globin expressing vector allows concurrent synthesis of curative adult and fetal hemoglobin
Inclusion of a short hairpin RNA targeting <i>BCL11A</i> into a β-globin expressing vector allows concurrent synthesis of curative adult and fetal hemoglobin Open
Inclusion of a short hairpin RNA targeting BCL11A into a β-globin expressing vector allows concurrent synthesis of curative adult and fetal hemoglobin Addition of a functional copy of the β-globin gene and reactivation of fetal hemoglobin …
View article: The hepcidin regulator erythroferrone is a new member of the erythropoiesis-iron-bone circuitry
The hepcidin regulator erythroferrone is a new member of the erythropoiesis-iron-bone circuitry Open
Background: Erythroblast erythroferrone (ERFE) secretion inhibits hepcidin expression by sequestering several bone morphogenetic protein (BMP) family members to increase iron availability for erythropoiesis. Methods: To address whether ERF…