Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination

por Bowling, Alyssa, Eastman, Alice, Merlo, Christian, Lin, Gabrielle, West, Natalie, Patel, Shivani, Cutting, Garry, Sharma, Neeraj
Publicado 2022

Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X

por Mention, Karen, Cavusoglu-Doran, Kader, Joynt, Anya T, Santos, Lúcia, Sanz, David, Eastman, Alice C, Merlo, Christian, Langfelder-Schwind, Elinor, Scallan, Martina F, Farinha, Carlos M, Cutting, Garry R, Sharma, Neeraj, Harrison, Patrick T
Publicado 2023

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells

por Joynt, Anya T., Kavanagh, Erin W., Newby, Gregory A., Mitchell, Shakela, Eastman, Alice C., Paul, Kathleen C., Bowling, Alyssa D., Osorio, Derek L., Merlo, Christian A., Patel, Shivani U., Raraigh, Karen S., Liu, David R., Sharma, Neeraj, Cutting, Garry R.
Publicado 2023

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

por Joynt, Anya T., Evans, Taylor A., Pellicore, Matthew J., Davis-Marcisak, Emily F., Aksit, Melis A., Eastman, Alice C., Patel, Shivani U., Paul, Kathleen C., Osorio, Derek L., Bowling, Alyssa D., Cotton, Calvin U., Raraigh, Karen S., West, Natalie E., Merlo, Christian A., Cutting, Garry R., Sharma, Neeraj
Publicado 2020