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Article

Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions.

International journal of molecular sciences - 25 Jun 2020

Uliyakina Inna, Botelho Hugo M, da Paula Ana C, Afonso Sara, Lobo Miguel J, Felício Verónica, Farinha Carlos M, Amaral Margarida D

Abstract excerpt

Cystic Fibrosis (CF) is caused by mutations in the CF Transmembrane conductance Regulator (CFTR), the only ATP-binding cassette (ABC) transporter functioning as a channel. Unique to CFTR is a regulatory domain which includes a highly conformationally dynamic region-the regulatory extension (RE). The first nucleotide-binding domain of CFTR contains another dynamic region-regulatory insertion (RI). Removal of RI...

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Identifiers

PMID: 32630527
DOI: 10.3390/ijms21124524
PMCID: PMC7350234

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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