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Article

Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond.

eLife - 6 Dec 2021

Simon Márton A, Csanády László

Abstract excerpt

The phosphorylation-activated anion channel cystic fibrosis transmembrane conductance regulator (CFTR) is gated by an ATP hydrolysis cycle at its two cytosolic nucleotide-binding domains, and is essential for epithelial salt-water transport. A large number of CFTR mutations cause cystic fibrosis. Since recent breakthrough in targeted pharmacotherapy, CFTR mutants with impaired gating are candidates for...

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Identifiers

PMID: 34870594
DOI: 10.7554/eLife.74693
PMCID: PMC8673840

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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