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

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<sup>TM</sup> and TRIKAFTA<sup>TM</sup> 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 mutati...

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Bibliographic Details
Main Authors: Onofrio Laselva, Jacqueline McCormack, Claire Bartlett, Wan Ip, Tarini N. A. Gunawardena, Hong Ouyang, Paul D. W. Eckford, Tanja Gonska, Theo J. Moraes, Christine E. Bear
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Journal of Personalized Medicine
Subjects:
cystic fibrosis
CFTR
rare mutations
c.3700A&gt
G
TRIKAFTA
Online Access:https://www.mdpi.com/2075-4426/10/4/209

Internet

https://www.mdpi.com/2075-4426/10/4/209

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