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Publication details

Document type
Journal articles

Document subtype
Full paper

Title
CFTR processing, trafficking and interactions

Participants in the publication
Margarida D. Amaral (Author)
Dep. Química e Bioquímica
BIOISI - Instituto de Biossistemas e Ciências Integrativas
Darren M Hutt (Author)
Valeria Tomati (Author)
Hugo M. Botelho (Author)
BIOISI - Instituto de Biossistemas e Ciências Integrativas
Nicoletta Pedemonte (Author)

Scope
International

Refereeing
No

Summary
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
2019-07-23
Date of Acceptance
2019-10-15
Date of Publication
2020-03

Where published
Journal of Cystic Fibrosis

Publication Identifiers
ISSN - 1569-1993

Publisher
Elsevier BV

Volume
19

Document Identifiers
DOI - https://doi.org/10.1016/j.jcf.2019.10.017
URL - http://dx.doi.org/10.1016/j.jcf.2019.10.017

Rankings
SCIMAGO Q1 (2018) - 1.57 - Pulmonary and Respiratory Medicine
SCOPUS Q1 (2017) - 1.587 - Pulmonary and Respiratory Medicine

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


Export

APA
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 . http://dx.doi.org/10.1016/j.jcf.2019.10.017

IEEE
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

BIBTEX
@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 }