Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases.

diseases isoform identification molecular modelling mutations proteins

Journal

Frontiers in chemistry
ISSN: 2296-2646
Titre abrégé: Front Chem
Pays: Switzerland
ID NLM: 101627988

Informations de publication

Date de publication:
2022
Historique:
received: 01 10 2022
accepted: 06 12 2022
entrez: 26 1 2023
pubmed: 27 1 2023
medline: 27 1 2023
Statut: epublish

Résumé

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.

Identifiants

pubmed: 36700074
doi: 10.3389/fchem.2022.1059593
pii: 1059593
pmc: PMC9868658
doi:

Types de publication

Journal Article

Langues

eng

Pagination

1059593

Informations de copyright

Copyright © 2023 Oliva, Musiani, Giorgetti, De Rubeis, Sorokina, Armstrong, Carloni and Ruggerone.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor SP declared a past co-authorship with the author AG.

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Auteurs

Francesco Oliva (F)

Department of Physics, University of Cagliari, Monserrato (CA), Italy.
Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany.

Francesco Musiani (F)

Laboratory of Bioinorganic Chemistry, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.

Alejandro Giorgetti (A)

Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany.
Department of Biotechnology, University of Verona, Verona, Italy.

Silvia De Rubeis (S)

Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States.

Oksana Sorokina (O)

The School of Informatics, University of Edinburgh, Edinburgh, United Kingdom.

Douglas J Armstrong (DJ)

Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany.
The School of Informatics, University of Edinburgh, Edinburgh, United Kingdom.
Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.

Paolo Carloni (P)

Institute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, Jülich, Germany.
Department of Physics, RWTH Aachen University, Aachen, Germany.
JARA-Institute: Molecular Neuroscience and Neuroimaging, Institute for Neuroscience and Medicine INM-11/JARA-BRAIN Institute JBI-2, Forschungszentrum Jülich GmbH, Jülich, Germany.

Paolo Ruggerone (P)

Department of Physics, University of Cagliari, Monserrato (CA), Italy.

Classifications MeSH