Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hillenaar, Tamara, Beekman, Jeffrey, van der Sluijs, Peter, Braakman, Ineke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9735543/
https://www.ncbi.nlm.nih.gov/pubmed/36499495
http://dx.doi.org/10.3390/ijms232315170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9735543/
https://www.ncbi.nlm.nih.gov/pubmed/36499495
http://dx.doi.org/10.3390/ijms232315170

Ejemplares similares