Search Results - "Motta, Irene"

Reactivation of Developmentally Silenced Globin Genes by Forced Chromatin Looping by Deng, Wulan, Rupon, Jeremy W., Krivega, Ivan, Breda, Laura, Motta, Irene, Jahn, Kristen S., Reik, Andreas, Gregory, Philip D., Rivella, Stefano, Dean, Ann, Blobel, Gerd A.

“…Distal enhancers commonly contact target promoters via chromatin looping. In erythroid cells, the locus control region (LCR) contacts β-type globin genes in a…”
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Rise of the planet of rare anemias: An update on emerging treatment strategies by Fattizzo, Bruno, Motta, Irene

“…Therapeutic options for rare congenital (hemoglobinopathies, membrane and enzyme defects, congenital dyserythropoietic anemia) and acquired anemias [warm…”
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Drug Design and Development for Rare Hematologic Diseases by Fattizzo, Bruno, Capecchi, Marco, Motta, Irene

“…The last decade has seen an exponential increase in therapeutic options for rare hematologic diseases [...]…”
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Pharmacological Induction of Fetal Hemoglobin in β-Thalassemia and Sickle Cell Disease: An Updated Perspective by Bou-Fakhredin, Rayan, De Franceschi, Lucia, Motta, Irene, Cappellini, Maria Domenica, Taher, Ali T.

“…A significant amount of attention has recently been devoted to the mechanisms involved in hemoglobin (Hb) switching, as it has previously been established that…”
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Elevated liver iron concentration is a marker of increased morbidity in patients with β thalassemia intermedia by MUSALLAM, Khaled M, CAPPELLINI, Maria Domenica, WOOD, John C, MOTTA, Irene, GRAZIADEI, Giovanna, TAMIM, Hani, TAHER, Ali T

“…Patients with β thalassemia intermedia can have substantial iron overload, irrespectively of their transfusion status, secondary to increased intestinal iron…”
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CURING HEMOGLOBINOPATHIES: CHALLENGES AND ADVANCES OF CONVENTIONAL AND NEW GENE THERAPY APPROACHES by Motta, Irene, Ghiaccio, Valentina, Cosentino, Andrea, Breda, Laura

“…Inherited hemoglobin disorders, including beta-thalassemia (BT) and sickle-cell disease (SCD) are the most common monogenic diseases worldwide, with a global…”
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Innovative Treatments for Rare Anemias by Cappellini, Maria Domenica, Marcon, Alessia, Fattizzo, Bruno, Motta, Irene

“…Rare anemias (RA) are mostly hereditary disorders with low prevalence and a broad spectrum of clinical severity, affecting different stages of erythropoiesis…”
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Interpreting Iron Homeostasis in Congenital and Acquired Disorders by Scaramellini, Natalia, Fischer, Dania, Agarvas, Anand R, Motta, Irene, Muckenthaler, Martina U, Mertens, Christina

“…Mammalian cells require iron to satisfy their metabolic needs and to accomplish specialized functions, such as hematopoiesis, mitochondrial biogenesis, energy…”
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Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure by Granata, Francesca, Duca, Lorena, Brancaleoni, Valentina, Fustinoni, Silvia, De Luca, Giacomo, Motta, Irene, Graziadei, Giovanna, Di Pierro, Elena

“…The homeostasis of tissues in a chronic disease is an essential function of the alternative pathway (AP) of the complement system (CS). However, if not…”
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Clinical Complications and Their Management by Marcon, Alessia, MD, Motta, Irene, MD, Taher, Ali T., MD, PhD, FRCP, Cappellini, Maria Domenica, MD

“…The hallmarks of thalassemias are ineffective erythropoiesis and peripheral hemolysis leading to a cascade of events responsible for several clinical…”
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Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report by Di Stefano, Valeria, Mancarella, Marta, Camporeale, Antonia, Regalia, Anna, Ferraresi, Marta, Pisaniello, Marco, Cassinerio, Elena, Pieruzzi, Federico, Motta, Irene

“…Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and,…”
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ACQUIRED REFRACTORY IRON DEFICIENCY by Migone De Amicis, Margherita, Rimondi, Alessandro, Elli, Luca, Motta, Irene

“…Anemia is a global health problem affecting one-third of the world population, and half of the cases are due to iron deficiency (ID). Iron de?ciency anemia…”
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Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients by Granata, Francesca, Brancaleoni, Valentina, Barman-Aksözen, Jasmin, Scopetti, Margherita, De Luca, Giacomo, Fustinoni, Silvia, Motta, Irene, Di Pierro, Elena, Graziadei, Giovanna

“…Background: The heme biosynthesis (HB) involves eight subsequent enzymatic steps. Erythropoietic protoporphyria (EPP) is caused by loss-of-function mutations…”
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Differential Redox State and Iron Regulation in Chronic Obstructive Pulmonary Disease, Acute Respiratory Distress Syndrome and Coronavirus Disease 2019 by Duca, Lorena, Ottolenghi, Sara, Coppola, Silvia, Rinaldo, Rocco, Dei Cas, Michele, Rubino, Federico Maria, Paroni, Rita, Samaja, Michele, Chiumello, Davide Alberto, Motta, Irene

“…In patients affected by Acute Respiratory Distress Syndrome (ARDS), Chronic Obstructive Pulmonary Disease (COPD) and Coronavirus Disease 2019 (COVID-19),…”
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ACTIVIN RECEPTOR LIGAND FOR THR TREATMENT OF BETA-THALASSEMIA: a SERENDIPITOUS DISCOVERY by Motta, Irene, Brancaleoni, Valentina, Nava, Isabella, Delbini, Paola, Duca, Lorena

“…b-thalassemia is a hereditary disorder caused by defective production of b-globin chains of hemoglobin (Hb) that leads to an increased a/b globins ratio with…”
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Usefulness of fibrosis-4 (FIB-4) score and metabolic alterations in the prediction of SARS-CoV-2 severity by Lombardi, Rosa, Mura, Vincenzo La, Cespiati, Annalisa, Iuculano, Federica, Sigon, Giordano, Pallini, Giada, Proietti, Marco, Motta, Irene, Montinaro, Beatrice, Fiorelli, Elisa, Cesari, Matteo, Bandera, Alessandra, Valenti, Luca, Peyvandi, Flora, Montano, Nicola, Baldini, Marina, Fracanzani, Anna Ludovica

“…Despite vaccination programs, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection remains a public health problem. Identifying key…”
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Redox Balance in β-Thalassemia and Sickle Cell Disease: A Love and Hate Relationship by Bou-Fakhredin, Rayan, De Franceschi, Lucia, Motta, Irene, Eid, Assaad A, Taher, Ali T, Cappellini, Maria Domenica

“…β-thalassemia and sickle cell disease (SCD) are inherited hemoglobinopathies that result in both quantitative and qualitative variations in the β-globin chain…”
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α-Lipoic Acid Improves Hepatic Metabolic Dysfunctions in Acute Intermittent Porphyria: A Proof-of-Concept Study by Longo, Miriam, Paolini, Erika, Meroni, Marica, Duca, Lorena, Motta, Irene, Fracanzani, Anna Ludovica, Di Pierro, Elena, Dongiovanni, Paola

“…Acute intermittent porphyria (AIP) is caused by the haploinsufficiency of porphobilinogen deaminase (PBGD) enzymatic activity. Acute attacks occur in response…”
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2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance by Dong, Alisa, Ghiaccio, Valentina, Motta, Irene, Guo, Shuling, Peralta, Raechel, Freier, Susan M, Watt, Andy, Damle, Sagar, Ikawa, Yasuhiro, Jarocha, Danuta, Chappell, Maxwell, Stephanou, Coralea, Delbini, Paola, Chen, Connie, Christou, Soteroula, Kleanthous, Marina, Smith-Whitley, Kim, Manwani, Deepa, Casu, Carla, Abdulmalik, Osheiza, Cappellini, Maria Domenica, Rivella, Stefano, Breda, Laura

“…β-thalassemia is a disorder caused by altered hemoglobin protein synthesis and affects individuals worldwide. Severe forms of the disease, left untreated, can…”
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Iron deficiency from the standpoint of cardiac rehabilitation: novel therapeutic opportunities by Malfatto, Gabriella, Frisinghelli, Anna, Ambrosetti, Marco, La Rovere, Maria Teresa, Motta, Irene, Passaretti, Bruno, Pavesi, Marco, Tramarin, Roberto, Dasseni, Niccolò, Faggiano, Pompilio

“…Anemia is one of the most frequent comorbidities found in patients with coronary artery disease and chronic heart failure (CHF) who are being followed in…”
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