[en] 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.
Disciplines :
Biotechnology
Author, co-author :
Pereira, Catarina; Faculty of Sciences, BioISI-Biosystems Integrative Sciences Institute, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal ; LASIGE, Faculty of Sciences, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal
MAZEIN, Alexander ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core ; CIRI UMR5308, CNRS-ENS-UCBL-INSERM, European Institute for Systems Biology and Medicine, Université de Lyon, 50 Avenue Tony Garnier, 69007, Lyon, France
Farinha, Carlos M; Faculty of Sciences, BioISI-Biosystems Integrative Sciences Institute, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal
Gray, Michael A; Biosciences Institute, University Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
Kunzelmann, Karl; Universität Regensburg, 9147, Regensburg, Germany
OSTASZEWSKI, Marek ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core
BALAUR, Irina-Afrodita ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core ; CIRI UMR5308, CNRS-ENS-UCBL-INSERM, European Institute for Systems Biology and Medicine, Université de Lyon, 50 Avenue Tony Garnier, 69007, Lyon, France
Amaral, Margarida D; Faculty of Sciences, BioISI-Biosystems Integrative Sciences Institute, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal
Falcao, Andre O; Faculty of Sciences, BioISI-Biosystems Integrative Sciences Institute, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal. aofalcao@ciencias.ulisboa.pt ; LASIGE, Faculty of Sciences, University of Lisboa, Campo Grande, 1749-016, Lisbon, Portugal. aofalcao@ciencias.ulisboa.pt
External co-authors :
yes
Language :
English
Title :
CyFi-MAP: an interactive pathway-based resource for cystic fibrosis.
Fundação para a Ciência e a Tecnologia Innovative Medicines Initiative Seventh Framework Programme
Funding text :
The authors would like to thank the domain experts that participated in stimulating discussions and valuable feedback and to the colleagues from FunGP—Functional Genomics and Proteostasis who tested CyFi-MAP and provided valuable suggestions. Work in MDA lab is supported by UIDB/04046/2020 and UIDP/04046/2020 centre grants (to BioISI) from FCT/MCTES Portugal. CP was recipient of fellowship SFRH/PD/BD/131405/2017 and through funding of LASIGE Research Unit, ref. UIDB/00408/2020 and ref. UIDP/00408/2020. AM and IB were supported in part by the Innovative Medicines Initiative Joint Undertaking under Grant Agreement No. IMI 115446 (eTRIKS), resources of which are composed of financial contributions from the European Union’s Seventh Framework Programme (FP7/2007–2013) and EFPIA companies.
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