Scalable GMP-compliant gene correction of CD4+ T cells with IDLV template functionally validated in vitro and in vivo

Autor: Claudia Asperti, Daniele Canarutto, Simona Porcellini, Francesca Sanvito, Francesca Cecere, Valentina Vavassori, Samuele Ferrari, Elisabetta Rovelli, Luisa Albano, Aurelien Jacob, Lucia Sergi Sergi, Elisa Montaldo, Francesca Ferrua, Luis Ignacio González-Granado, Vassilios Lougaris, Raffaele Badolato, Andrea Finocchi, Anna Villa, Marina Radrizzani, Luigi Naldini

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 546-557 (2023)

Hyper-IgM1 is a rare X-linked combined immunodeficiency caused by mutations in the CD40 ligand (CD40LG) gene with a median survival of 25 years, potentially treatable with in situ CD4+ T cell gene editing with Cas9 and a one-size-fits-most corrective

Externí odkaz: https://doaj.org/article/95bf4664548f487685bff24201e74568

Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy

Autor: Anna Cozzi, Elisabetta Rovelli, Grazia Frizzale, Alessandro Campanella, Mario Amendola, Paolo Arosio, Sonia Levi

Publikováno v: Neurobiology of Disease, Vol 37, Iss 1, Pp 77-85 (2010)

Neuroferritinopathies are dominantly inherited movement disorders associated with nucleotide insertions in the L-ferritin gene that modify the protein's C-terminus. The insertions alter physical and functional properties of the ferritins, causing an

Externí odkaz: https://doaj.org/article/858c4478586245dda7024fcde95eb7ee

Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties

Autor: Barbara Garavaglia, Michela Guaraldo, Alessandro Campanella, Elisabetta Rovelli, Sonia Levi, Anna Cozzi, Chiara Barzaghi, Daniela Privitera, Paolo Santambrogio

Publikováno v: Human Molecular Genetics. 21:4049-4059

Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disease belonging to the group of neurodegeneration with brain iron accumulation disorders. It is characterized by progressive impairments in movement, speech and cognitio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73141784361af0133de8c89f2ab3b585
https://doi.org/10.1093/hmg/dds229

Oxidative stress and cell death in cells expressing L-ferritin variants causing neuroferritinopathy

Autor: Paolo Arosio, Mario Amendola, Grazia Frizzale, Alessandro Campanella, Elisabetta Rovelli, Sonia Levi, Anna Cozzi

Publikováno v: Neurobiology of Disease, Vol 37, Iss 1, Pp 77-85 (2010)
Neurobiology of Disease
Neurobiology of Disease, 2010, 37 (1), pp.77-85. ⟨10.1016/j.nbd.2009.09.009⟩

Neuroferritinopathies are dominantly inherited movement disorders associated with nucleotide insertions in the L-ferritin gene that modify the protein's C-terminus. The insertions alter physical and functional properties of the ferritins, causing an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b5eb1631fe83c894068b99f04381f18
http://hdl.handle.net/11379/21489