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Article

Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

Proceedings of the National Academy of Sciences of the United States of America - 21 Nov 2006

Roxo-Rosa Mónica, Xu Zhe, Schmidt André, Neto Mário, Cai Zhiwei, Soares Cláudio M, Sheppard David N, Amaral Margarida D

Abstract excerpt

The revertant mutations G550E and 4RK [the simultaneous mutation of four arginine-framed tripeptides (AFTs): R29K, R516K, R555K, and R766K] rescue the cell surface expression and function of F508del-cystic fibrosis (CF) transmembrane conductance regulator (-CFTR), the most common CF mutation. Here, we investigate their mechanism of action by using biochemical and functional assays to examine their effects on...

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Source

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Identifiers

PMID: 17098864
DOI: 10.1073/pnas.0608312103
PMCID: PMC1693843

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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