SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells

por Rosato, Barbara Eleni, Marra, Roberta, D’Onofrio, Vanessa, Del Giudice, Federica, Della Monica, Simone, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Publicado 2022

P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

por Marra, Roberta, Nostroso, Antonella, Maria Esposito, Federica, Eleni Rosato, Barbara, D’onofrio, Vanessa, D’alterio, Giuseppe, Capasso, Mario, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta
Publicado 2023

P1468: PIEZO1 GAIN-OF-FUNCTION VARIANTS ACCOUNT FOR STRESSED ERYTHROPOIESIS BY ALTERING APOPTOSIS, HYPOXIA CELL RESPONSE, AND GLYCOLYSIS

por Eleni Rosato, Barbara, D’onofrio, Vanessa, Nostroso, Antonella, Marra, Roberta, Maria Esposito, Federica, Raia, Maddalena, D’alterio, Giuseppe, Capasso, Mario, Iolascon, Achille, Russo, Roberta, Andolfo, Immacolata
Publicado 2023