CyFi-MAP: an interactive pathway-based resource for cystic fibrosis

Abstract Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assis...

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Autores principales: Catarina Pereira, Alexander Mazein, Carlos M. Farinha, Michael A. Gray, Karl Kunzelmann, Marek Ostaszewski, Irina Balaur, Margarida D. Amaral, Andre O. Falcao
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Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/61bb59c2153246c1a0ae7d255451f7f9
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spelling oai:doaj.org-article:61bb59c2153246c1a0ae7d255451f7f92021-11-21T12:18:10ZCyFi-MAP: an interactive pathway-based resource for cystic fibrosis10.1038/s41598-021-01618-32045-2322https://doaj.org/article/61bb59c2153246c1a0ae7d255451f7f92021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01618-3https://doaj.org/toc/2045-2322Abstract Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the collection and visualization of CF data to extract additional biological significance and find novel therapeutic targets. Here, we present the CyFi-MAP—a disease map repository of CFTR molecular mechanisms and pathways involved in CF. Specifically, we represented the wild-type (wt-CFTR) and the F508del associated processes (F508del-CFTR) in separate submaps, with pathways related to protein biosynthesis, endoplasmic reticulum retention, export, activation/inactivation of channel function, and recycling/degradation after endocytosis. CyFi-MAP is an open-access resource with specific, curated and continuously updated information on CFTR-related pathways available online at https://cysticfibrosismap.github.io/ . This tool was developed as a reference CF pathway data repository to be continuously updated and used worldwide in CF research.Catarina PereiraAlexander MazeinCarlos M. FarinhaMichael A. GrayKarl KunzelmannMarek OstaszewskiIrina BalaurMargarida D. AmaralAndre O. FalcaoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Catarina Pereira
Alexander Mazein
Carlos M. Farinha
Michael A. Gray
Karl Kunzelmann
Marek Ostaszewski
Irina Balaur
Margarida D. Amaral
Andre O. Falcao
CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
description Abstract Cystic fibrosis (CF) is a life-threatening autosomal recessive disease caused by more than 2100 mutations in the CF transmembrane conductance regulator (CFTR) gene, generating variability in disease severity among individuals with CF sharing the same CFTR genotype. Systems biology can assist in the collection and visualization of CF data to extract additional biological significance and find novel therapeutic targets. Here, we present the CyFi-MAP—a disease map repository of CFTR molecular mechanisms and pathways involved in CF. Specifically, we represented the wild-type (wt-CFTR) and the F508del associated processes (F508del-CFTR) in separate submaps, with pathways related to protein biosynthesis, endoplasmic reticulum retention, export, activation/inactivation of channel function, and recycling/degradation after endocytosis. CyFi-MAP is an open-access resource with specific, curated and continuously updated information on CFTR-related pathways available online at https://cysticfibrosismap.github.io/ . This tool was developed as a reference CF pathway data repository to be continuously updated and used worldwide in CF research.
format article
author Catarina Pereira
Alexander Mazein
Carlos M. Farinha
Michael A. Gray
Karl Kunzelmann
Marek Ostaszewski
Irina Balaur
Margarida D. Amaral
Andre O. Falcao
author_facet Catarina Pereira
Alexander Mazein
Carlos M. Farinha
Michael A. Gray
Karl Kunzelmann
Marek Ostaszewski
Irina Balaur
Margarida D. Amaral
Andre O. Falcao
author_sort Catarina Pereira
title CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_short CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_full CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_fullStr CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_full_unstemmed CyFi-MAP: an interactive pathway-based resource for cystic fibrosis
title_sort cyfi-map: an interactive pathway-based resource for cystic fibrosis
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/61bb59c2153246c1a0ae7d255451f7f9
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