Preclinical Studies of a Rare CF-Causing Mutation in the Second Nucleotide Binding Domain (c.3700A>G) Show Robust Functional Rescue in Primary Nasal Cultures by Novel CFTR Modulators

The combination therapies ORKAMBI(TM) and TRIKAFTA(TM) are approved for people who have the F508del mutation on at least one allele. In this study we examine the effects of potentiator and corrector combinations on the rare mutation c.3700A>G. This mutation produces a cryptic splice site that del...

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Detalles Bibliográficos
Autores principales: Laselva, Onofrio, McCormack, Jacqueline, Bartlett, Claire, Ip, Wan, Gunawardena, Tarini N. A., Ouyang, Hong, Eckford, Paul D. W., Gonska, Tanja, Moraes, Theo J., Bear, Christine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712331/
https://www.ncbi.nlm.nih.gov/pubmed/33167369
http://dx.doi.org/10.3390/jpm10040209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712331/
https://www.ncbi.nlm.nih.gov/pubmed/33167369
http://dx.doi.org/10.3390/jpm10040209

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