@article{137dc7470b6a438a82465d489fcc46a6,
title = "Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases",
abstract = "The seamless integration of human disease-related mutation data into protein structures is an essential component of any attempt to correctly assess the impact of the mutation. The key step preliminary to any structural modelling is the identification of the isoforms onto which mutations should be mapped due to there being several functionally different protein isoforms from the same gene. To handle large sets of data coming from omics techniques, this challenging task needs to be automatized. Here we present the MoNvIso (Modelling eNvironment for Isoforms) code, which identifies the most useful isoform for computational modelling, balancing the coverage of mutations of interest and the availability of templates to build a structural model of both the wild-type isoform and the related variants.",
keywords = "diseases, isoform identification, molecular modelling, mutations, proteins",
author = "Francesco Oliva and Francesco Musiani and Alejandro Giorgetti and {De Rubeis}, Silvia and Oksana Sorokina and Armstrong, {Douglas J.} and Paolo Carloni and Paolo Ruggerone",
note = "Funding Information: PC acknowledges the Deutsche Forschungsgemeinschaft (DFG) via the Research Training Group RTG2416 MultiSenses-MultiScales (368482240/GRK2416). We thank Emiliano Ippoliti (J{\"u}lich), Enrico Gandini (Milan), and Andrea Bosin (Cagliari) for technical support. Funding Information: SR received a Wilhelm Bessel Research Award from the Alexander von Humboldt Foundation. JA and OS received funding from the European Union{\textquoteright}s Horizon 2020 Framework Programme for Research and Innovation under the Specific Grant Agreement No. 945539 (Human Brain Project SGA3). Funding Information: SR received a Wilhelm Bessel Research Award from the Alexander von Humboldt Foundation. JA and OS received funding from the European Union{\textquoteright}s Horizon 2020 Framework Programme for Research and Innovation under the Specific Grant Agreement No. 945539 (Human Brain Project SGA3). Publisher Copyright: Copyright {\textcopyright} 2023 Oliva, Musiani, Giorgetti, De Rubeis, Sorokina, Armstrong, Carloni and Ruggerone.",
year = "2023",
month = jan,
day = "9",
doi = "10.3389/fchem.2022.1059593",
language = "English",
volume = "10",
journal = "Frontiers in Chemistry",
issn = "2296-2646",
publisher = "Frontiers Media S.A.",
}