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Article

Processing and function of CFTR-DeltaF508 are species-dependent.

Proceedings of the National Academy of Sciences of the United States of America - 25 Sept 2007

Ostedgaard Lynda S, Rogers Christopher S, Dong Qian, Randak Christoph O, Vermeer Daniel W, Rokhlina Tatiana, Karp Philip H, Welsh Michael J

Abstract excerpt

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) cause cystic fibrosis. The most common mutation, a deletion of the phenylalanine at position 508 (DeltaF508), disrupts processing of the protein. Nearly all human CFTR-DeltaF508 is retained in the endoplasmic reticulum and degraded, preventing maturation to the plasma membrane. In addition, the F508 deletion reduces the activity of single...

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Source

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Identifiers

PMID: 17873061
DOI: 10.1073/pnas.0706974104
PMCID: PMC1976592

Genes

CFTR

Provenance

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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