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Publication details

Document type
Journal articles

Document subtype
Full paper

CFTR processing, trafficking and interactions

Participants in the publication
Margarida D. Amaral (Author)
Dep. Química e Bioquímica
Darren M Hutt (Author)
Valeria Tomati (Author)
Hugo M. Botelho (Author)
Dep. Química e Bioquímica
Nicoletta Pedemonte (Author)

Mutations associated with cystic fibrosis (CF) have complex effects on the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common CF mutation, F508del, disrupts the processing to and stability at the plasma membrane and function as a Cl- channel. CFTR is surrounded by a dynamic network of interacting components, referred to as the CFTR Functional Landscape, that impact its synthesis, folding, stability, trafficking and function. CFTR interacting proteins can be manipulated by functional genomic approaches to rescue the trafficking and functional defects characteristic of CF. Here we review recent efforts to elucidate the impact of genetic variation on the ability of the nascent CFTR polypeptide to interact with the proteostatic environment. We also provide an overview of how specific components of this protein network can be modulated to rescue the trafficking and functional defects associated with the F508del variant of CFTR. The identification of novel proteins playing key roles in the processing of CFTR could pave the way for their use as novel therapeutic targets to provide synergistic correction of mutant CFTR for the greater benefit of individuals with CF.

Date of Submisson/Request
Date of Acceptance
Date of Publication

Where published
Journal of Cystic Fibrosis

Publication Identifiers
ISSN - 1569-1993

Elsevier BV


Document Identifiers

SCIMAGO Q1 (2018) - 1.57 - Pulmonary and Respiratory Medicine
SCOPUS Q1 (2017) - 1.587 - Pulmonary and Respiratory Medicine
Web Of Science Q1 (2020) - 5.482 - RESPIRATORY SYSTEM - SCIE
SCIMAGO Q1 (2020) - 2.049 - Pediatrics, Perinatology and Child Health
SCIMAGO Q1 (2020) - 2.049 - Pulmonary and Respiratory Medicine
SCIMAGO Q1 (2019) - 1.411 - Pulmonary and Respiratory Medicine

CFTR Cl-channel F508del-CFTR CFTR correctors Proteostasis regulators CFTR interactome CFTR functional landscape siRNA screening


Margarida D. Amaral, Darren M Hutt, Valeria Tomati, Hugo M. Botelho, Nicoletta Pedemonte, (2020). CFTR processing, trafficking and interactions. Journal of Cystic Fibrosis, 19, ISSN 1569-1993. eISSN .

Margarida D. Amaral, Darren M Hutt, Valeria Tomati, Hugo M. Botelho, Nicoletta Pedemonte, "CFTR processing, trafficking and interactions" in Journal of Cystic Fibrosis, vol. 19, 2020. 10.1016/j.jcf.2019.10.017

@article{45471, author = {Margarida D. Amaral and Darren M Hutt and Valeria Tomati and Hugo M. Botelho and Nicoletta Pedemonte}, title = {CFTR processing, trafficking and interactions}, journal = {Journal of Cystic Fibrosis}, year = 2020, volume = 19 }