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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies

Cystic fibrosis (CF) is the most common monogenic disorder, caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Over the last 30 years, tremendous progress has been made in understanding the molecular basis of CF and the development of treatments that target the underlying...

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Autores principales: Ensinck, Marjolein M., Carlon, Marianne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9220995/
https://www.ncbi.nlm.nih.gov/pubmed/35740997
http://dx.doi.org/10.3390/cells11121868
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author Ensinck, Marjolein M.
Carlon, Marianne S.
author_facet Ensinck, Marjolein M.
Carlon, Marianne S.
author_sort Ensinck, Marjolein M.
collection PubMed
description Cystic fibrosis (CF) is the most common monogenic disorder, caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Over the last 30 years, tremendous progress has been made in understanding the molecular basis of CF and the development of treatments that target the underlying defects in CF. Currently, a highly effective CFTR modulator treatment (Kalydeco™/Trikafta™) is available for 90% of people with CF. In this review, we will give an extensive overview of past and ongoing efforts in the development of therapies targeting the molecular defects in CF. We will discuss strategies targeting the CFTR protein (i.e., CFTR modulators such as correctors and potentiators), its cellular environment (i.e., proteostasis modulation, stabilization at the plasma membrane), the CFTR mRNA (i.e., amplifiers, nonsense mediated mRNA decay suppressors, translational readthrough inducing drugs) or the CFTR gene (gene therapies). Finally, we will focus on how these efforts can be applied to the 15% of people with CF for whom no causal therapy is available yet.
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spelling pubmed-92209952022-06-24 One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies Ensinck, Marjolein M. Carlon, Marianne S. Cells Review Cystic fibrosis (CF) is the most common monogenic disorder, caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Over the last 30 years, tremendous progress has been made in understanding the molecular basis of CF and the development of treatments that target the underlying defects in CF. Currently, a highly effective CFTR modulator treatment (Kalydeco™/Trikafta™) is available for 90% of people with CF. In this review, we will give an extensive overview of past and ongoing efforts in the development of therapies targeting the molecular defects in CF. We will discuss strategies targeting the CFTR protein (i.e., CFTR modulators such as correctors and potentiators), its cellular environment (i.e., proteostasis modulation, stabilization at the plasma membrane), the CFTR mRNA (i.e., amplifiers, nonsense mediated mRNA decay suppressors, translational readthrough inducing drugs) or the CFTR gene (gene therapies). Finally, we will focus on how these efforts can be applied to the 15% of people with CF for whom no causal therapy is available yet. MDPI 2022-06-08 /pmc/articles/PMC9220995/ /pubmed/35740997 http://dx.doi.org/10.3390/cells11121868 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Ensinck, Marjolein M.
Carlon, Marianne S.
One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies
title One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies
title_full One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies
title_fullStr One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies
title_full_unstemmed One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies
title_short One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies
title_sort one size does not fit all: the past, present and future of cystic fibrosis causal therapies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9220995/
https://www.ncbi.nlm.nih.gov/pubmed/35740997
http://dx.doi.org/10.3390/cells11121868
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