Non-viral DNA delivery and TALEN editing correct the sickle cell mutation in hematopoietic stem cells

Autor: Arianna Moiani, Gil Letort, Sabrina Lizot, Anne Chalumeau, Chloe Foray, Tristan Felix, Diane Le Clerre, Sonal Temburni-Blake, Patrick Hong, Sophie Leduc, Noemie Pinard, Alan Marechal, Eduardo Seclen, Alex Boyne, Louisa Mayer, Robert Hong, Sylvain Pulicani, Roman Galetto, Agnès Gouble, Marina Cavazzana, Alexandre Juillerat, Annarita Miccio, Aymeric Duclert, Philippe Duchateau, Julien Valton

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

Abstract Sickle cell disease is a devastating blood disorder that originates from a single point mutation in the HBB gene coding for hemoglobin. Here, we develop a GMP-compatible TALEN-mediated gene editing process enabling efficient HBB correction v

Externí odkaz: https://doaj.org/article/a5ed07ba92514c729d823ca1c6aa5120

Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

Autor: Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Felix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Cecile Masson, Megane Brusson, Giulia Maule, Marion Rosello, Carine Giovannangeli, Vincent Abramowski, Jean-Pierre de Villartay, Jean-Paul Concordet, Filippo Del Bene, Wassim El Nemer, Mario Amendola, Marina Cavazzana, Anna Cereseto, Oriana Romano, Annarita Miccio

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)

Antoniou and colleagues used base editing to generate a variety of mutations inducing γ-globin and rescue the β-hemoglobinopathy phenotype. This strategy was safe and effective in long-term repopulating hematopoietic stem/progenitor cells.

Externí odkaz: https://doaj.org/article/313aa0fc4a794f6798f4ea808d498494

Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies

Autor: Mégane Brusson, Anne Chalumeau, Pierre Martinucci, Oriana Romano, Valentina Poletti, Samantha Scaramuzza, Sophie Ramadier, Cecile Masson, Giuliana Ferrari, Fulvio Mavilio, Marina Cavazzana, Mario Amendola, Annarita Miccio

Sickle cell disease (SCD) is due to a mutation in the β-globin (HBB) gene causing the production of the toxic sickle hemoglobin (HbS, a2βS2). Transplantation of autologous hematopoietic stem/progenitor cells (HSPCs) transduced with lentiviral vecto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2e1557fbe1d1a4ea9a62d6a74bf8258e
https://doi.org/10.1101/2022.12.31.522279

Combination of lentiviral and genome editing technologies for the treatment of sickle cell disease

Autor: Jean-Paul Concordet, Anne Chalumeau, Tristan Felix, Nadia Othman, Sherazade Aknoun, Annarita Miccio, Mario Amendola, Wassim El Nemer, Sophie Ramadier, Vasco Meneghini, Mégane Brusson, Anna Cereseto, Giacomo Frati, Giulia Maule, Marina Cavazzana, Antonio Casini, Benoit Wattellier, Anne De Cian, Cécile Masson

Publikováno v: Mol Ther
Molecular Therapy
Molecular Therapy, 2022, 30 (1), pp.145-163. ⟨10.1016/j.ymthe.2021.08.019⟩

Sickle cell disease (SCD) is caused by a mutation in the β-globin gene leading to polymerization of the sickle hemoglobin (HbS) and deformation of red blood cells. Autologous transplantation of hematopoietic stem/progenitor cells (HSPCs) genetically

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::786a57c29056b4c4e23fe3fdd9f542f9
https://pubmed.ncbi.nlm.nih.gov/34418541

Editing a y-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype

Autor: Anne Chalumeau, Cécile Masson, Marina Cavazzana, Tristan Felix, Vasco Meneghini, Anne De Cian, Isabelle André-Schmutz, Anna Cereseto, Wassim El Nemer, Giacomo Frati, Carine Giovannangeli, Clara Wollenschlaeger, Leslie Weber, Mario Amendola, Giulia Hardouin, Antonio Casini, Fulvio Mavilio, Annarita Miccio, Jean-Paul Concordet

Publikováno v: Science Advances
Science Advances, American Association for the Advancement of Science (AAAS), 2020, 6 (7), pp.eaay9392. ⟨10.1126/sciadv.aay9392⟩

Editing the fetal γ-globin promoters in hematopoietic stem cells from sickle cell disease patients induces therapeutic γ-globin levels.
Sickle cell disease (SCD) is caused by a single amino acid change in the adult hemoglobin (Hb) β chain tha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f821ecb9947713ce7c6b250a43b2e0d1
https://hal-mnhn.archives-ouvertes.fr/mnhn-03100446