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.
Sci Rep. 2021 Nov 15;11(1):22223. doi: 10.1038/s41598-021-01618-3.
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.
囊性纤维化 (CF) 是一种危及生命的常染色体隐性疾病,由 CF 跨膜电导调节因子 (CFTR) 基因中的 2100 多个突变引起,导致具有相同 CFTR 基因型的 CF 个体之间的疾病严重程度存在差异。系统生物学可以帮助收集和可视化 CF 数据,以提取额外的生物学意义并找到新的治疗靶点。在这里,我们介绍了 CyFi-MAP,这是一个 CFTR 分子机制和参与 CF 的途径的疾病图谱存储库。具体来说,我们在单独的子图中表示了野生型 (wt-CFTR) 和与 F508del 相关的过程 (F508del-CFTR),与蛋白质生物合成、内质网保留、出口、通道功能的激活/失活以及内吞作用后的回收/降解相关的途径。CyFi-MAP 是一个开放获取的资源,具有特定的、经过精心整理的、不断更新的 CFTR 相关途径信息,可在 https://cysticfibrosismap.github.io/ 在线获取。该工具被开发为 CF 途径数据存储库的参考,将在全球范围内不断更新并用于 CF 研究。