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Your search keyword '"Ramalho, Anabela S."' showing total 9 results
Start Over Author "Ramalho, Anabela S." Publisher elsevier bv
9 results on '"Ramalho, Anabela S."'

1. Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis

Author

Bierlaagh, Marlou C., primary, Ramalho, Anabela S., additional, Silva, Iris A.L., additional, Vonk, Annelotte M., additional, van den Bor, Rutger M., additional, van Mourik, Peter, additional, Pott, Johanna, additional, Suen, Sylvia W.F., additional, Boj, Sylvia F., additional, Vries, Robert G.J., additional, Lammertyn, Elise, additional, Vermeulen, François, additional, Amaral, Margarida D., additional, de Boeck, Kris, additional, van der Ent, Cornelis K., additional, and Beekman, Jeffrey M., additional

Published
2024
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2. Functional restoration of a CFTR splicing mutation through RNA delivery of CRISPR adenine base editor

Author

Amistadi, Simone, primary, Maule, Giulia, additional, Ciciani, Matteo, additional, Ensinck, Marjolein M., additional, De Keersmaecker, Liesbeth, additional, Ramalho, Anabela S., additional, Guidone, Daniela, additional, Buccirossi, Martina, additional, Galietta, Luis J.V., additional, Carlon, Marianne S., additional, and Cereseto, Anna, additional

Published
2023
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4. Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis

Author

Cuyx, Senne, primary, Ramalho, Sofia S., additional, Callebaut, Isabelle, additional, Cuppens, Harry, additional, Kmit, Arthur, additional, Arnauts, Kaline, additional, Ferrante, Marc, additional, Verfaillie, Catherine, additional, Ensinck, Marjolein, additional, Carlon, Marianne S., additional, Boon, Mieke, additional, Proesmans, Marijke, additional, Dupont, Lieven, additional, De Boeck, Kris, additional, Farinha, Carlos M., additional, Vermeulen, François, additional, and Ramalho, Anabela S., additional

Published
2022
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5. Protocol for Application, Standardization and Validation of the Forskolin-Induced Swelling Assay in Cystic Fibrosis Human Colon Organoids

Author

Vonk, Annelotte M., primary, van Mourik, Peter, additional, Ramalho, Anabela S., additional, Silva, Iris A.L., additional, Statia, Marvin, additional, Kruisselbrink, Evelien, additional, Suen, Sylvia W.F., additional, Dekkers, Johanna F., additional, Vleggaar, Frank P., additional, Houwen, Roderick H.J., additional, Mullenders, Jasper, additional, Boj, Sylvia F., additional, Vries, Robert, additional, Amaral, Margarida D., additional, de Boeck, Kris, additional, van der Ent, Cornelis K., additional, and Beekman, Jeffrey M., additional

Published
2020
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7. Quantitative methods for the analysis of CFTR transcripts/splicing variants

Author

Amaral, Margarida D., primary, Clarke, Luka A., additional, Ramalho, Anabela S., additional, Beck, Sebastian, additional, Broackes-Carter, Fiona, additional, Rowntree, Rebecca, additional, Mouchel, Nathalie, additional, Williams, Sarah H., additional, Harris, Ann, additional, Tzetis, Maria, additional, Steiner, Bernhard, additional, Sanz, Javier, additional, Gallati, Sabina, additional, Nissim-Rafinifa, Malka, additional, Kerem, Batsheva, additional, Hefferon, Timothy, additional, Cutting, Garry R., additional, Goina, Elisa, additional, and Pagani, Franco, additional

Published
2004
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9. Functional restoration of a CFTR splicing mutation through RNA delivery of CRISPR adenine base editor

Author

Simone Amistadi, Giulia Maule, Matteo Ciciani, Marjolein M. Ensinck, Liesbeth De Keersmaecker, Anabela S. Ramalho, Daniela Guidone, Martina Buccirossi, Luis J.V. Galietta, Marianne S. Carlon, Anna Cereseto, Amistadi, Simone, Maule, Giulia, Ciciani, Matteo, Ensinck, Marjolein M, De Keersmaecker, Liesbeth, Ramalho, Anabela S, Guidone, Daniela, Buccirossi, Martina, Galietta, Luis Juan Vicente, Carlon, Marianne S, and Cereseto, Anna

Subjects
Pharmacology, base editing, gene editing, organoid, Drug Discovery, Genetics, RNA delivery, primary bronchial epithelial cells, Molecular Medicine, CRISPR-Cas9, gene therapy, Molecular Biology, cystic fibrosi
Abstract

Cystic fibrosis (CF) is a genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The 2789+5G>A CFTR mutation is a quite frequent defect causing an aberrant splicing and a non-functional CFTR protein. Here we used a CRISPR adenine base editing (ABE) approach to correct the mutation in the absence of DNA double-strand breaks (DSB). To select the strategy, we developed a minigene cellular model reproducing the 2789+5G>A splicing defect. We obtained up to 70% editing in the minigene model by adapting the ABE to the PAM sequence optimal for targeting 2789+5G>A with a SpCas9-NG (NG-ABE). Nonetheless, the on-target base correction was accompanied by secondary (bystander) A-to-G conversions in nearby nucleotides, which affected the wild-type CFTR splicing. To decrease the bystander edits, we used a specific ABE (NG-ABEmax), which was delivered as mRNA. The NG-ABEmax RNA approach was validated in patient-derived rectal organoids and bronchial epithelial cells showing sufficient gene correction to recover the CFTR function. Finally, in-depth sequencing revealed high editing precision genome-wide and allele-specific correction. Here we report the development of a base editing strategy to precisely repair the 2789+5G>A mutation resulting in restoration of the CFTR function, while reducing bystander and off-target activities.

Published
2023
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