Article

Redefining hypo- and hyper-responding phenotypes of CFTR mutants for understanding and therapy

2022-09-13

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in CFTR cause misfolding and decreased or absent ion-channel function, resulting in the disease Cystic Fibrosis. Fortunately, a triple-modulator combination therapy (Trikafta) has been FDA approved for 178 mutations, including all patients who have F508del on one allele. That so many CFTR mutants respond well to modulators developed for a single mutation is due to the nature of the fol...

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Literature Corpus work: 92efea72-131b-5f7f-849d-4e051fcf5594
DOI: 10.1101/2022.09.12.507537

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