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Article

Rescue of CFTR NBD2 mutants N1303K and S1235R is influenced by the functioning of the autophagosome.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Sept 2018

Liu Qiangni, Sabirzhanova Inna, Yanda Murali K, Bergbower Emily A S, Boinot Clément, Guggino William B, Cebotaru Liudmila

Abstract excerpt

The missing phenylalanine at position 508, located in nucleotide-binding domain (NBD1) of the cystic fibrosis transmembrane regulator (CFTR), is the most common cystic fibrosis mutation. Severe disease-causing mutations also occur in NBD2. To provide information on potential therapeutic strategies for mutations in NBD2, we used a combination of biochemical, cell biological and electrophysiological approaches and...

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Source

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Identifiers

PMID: 29936070
DOI: 10.1016/j.jcf.2018.05.016
PMCID: PMC6435267

Genes

CFTR

Variants

Provenance

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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