Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost half of the disease-causing variants in CFTR are predicted to introduce premature termination codons (PTC) thereby causing absence of full-l...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Sharma, Neeraj, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Aksit, Melis A., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhu, Han, Sangwoo T., Anzmann, Arianna F., Lam, Anh-Thu N., Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B., Raraigh, Karen S., Sosnay, Patrick R., Cotton, Calvin U., Cutting, Garry R.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6267994/
https://ncbi.nlm.nih.gov/pubmed/30444886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007723
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