Analytical Chemistry Lab, Istituto Italiano di Tecnologia, Via Morego 30, 16163 Genova, Italy.
U.O.C. Genetica Medica, IRCCS Giannina Gaslini, Via Gerolamo Gaslini 5, 16147 Genova, Italy.
Int J Mol Sci. 2020 Jul 30;21(15):5439. doi: 10.3390/ijms21155439.
The aim of this review article is to introduce the reader to the state-of-the-art of the contribution that proteomics and metabolomics sciences are currently providing for cystic fibrosis (CF) research: from the understanding of cystic fibrosis transmembrane conductance regulator (CFTR) biology to biomarker discovery for CF diagnosis. Our work particularly focuses on CFTR post-translational modifications and their role in cellular trafficking as well as on studies that allowed the identification of CFTR molecular interactors. We also show how metabolomics is currently helping biomarker discovery in CF. The most recent advances in these fields are covered by this review, as well as some considerations on possible future scenarios for new applications.
本文的目的是向读者介绍蛋白质组学和代谢组学科学目前为囊性纤维化 (CF) 研究做出的贡献的最新进展:从囊性纤维化跨膜电导调节因子 (CFTR) 生物学的理解到 CF 诊断的生物标志物发现。我们的工作特别关注 CFTR 的翻译后修饰及其在细胞运输中的作用,以及能够识别 CFTR 分子相互作用者的研究。我们还展示了代谢组学如何有助于 CF 中的生物标志物发现。本文涵盖了这些领域的最新进展,以及对未来新应用可能出现的一些情况的考虑。