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Article

CFTR mutations altering CFTR fragmentation.

The Biochemical journal - 1 Jan 2013

Tosoni Kendra, Stobbart Michelle, Cassidy Diane M, Venerando Andrea, Pagano Mario A, Luz Simão, Amaral Margarida D, Kunzelmann Karl, Pinna Lorenzo A, Farinha Carlos M, Mehta Anil

Abstract excerpt

Most CF (cystic fibrosis) results from deletion of a phenylalanine (F508) in the CFTR {CF transmembrane-conductance regulator; ABCC7 [ABC (ATP-binding cassette) sub-family C member 7]} which causes ER (endoplasmic reticulum) degradation of the mutant. Using stably CFTR-expressing BHK (baby-hamster kidney) cell lines we demonstrated that wild-type CTFR and the F508delCFTR mutant are cleaved into differently sized...

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Source

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Identifiers

PMID: 23067305
DOI: 10.1042/BJ20121240
PMCID: PMC3542821

Genes

CFTR

Variants

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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