The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue

Patients with cystic fibrosis (CF) harboring the P67L variant in the cystic fibrosis transmembrane conductance regulator (CFTR) often exhibit a typical CF phenotype, including severe respiratory compromise. This rare mutation (reported in <300 patients worldwide) responds robustly to CFTR correct...

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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: Sabusap, Carleen Mae, Joshi, Disha, Simhaev, Luba, Oliver, Kathryn E., Senderowitz, Hanoch, van Willigen, Marcel, Braakman, Ineke, Rab, Andras, Sorscher, Eric J., Hong, Jeong S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2021
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8102917/
https://ncbi.nlm.nih.gov/pubmed/33781744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jbc.2021.100598
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