Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

por De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne
Publicado 2022

Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine

por Bianchi, Marzia, Rossi, Luigia, Pierigè, Francesca, De Angeli, Pietro, Aliano, Mattia Paolo, Carducci, Claudia, Di Carlo, Emanuele, Pascucci, Tiziana, Nardecchia, Francesca, Leuzzi, Vincenzo, Magnani, Mauro
Publicado 2022

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

por Stingl, Katarina, Baumann, Britta, De Angeli, Pietro, Vincent, Ajoy, Héon, Elise, Cordonnier, Monique, De Baere, Elfriede, Raskin, Salmo, Sato, Mario Teruo, Shiokawa, Naoye, Kohl, Susanne, Wissinger, Bernd
Publicado 2022