RNA-binding proteins in human genetic disease

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• dc.contributor.author Gebauer, Fátima
• dc.contributor.author Schwarzl, Thomas
• dc.contributor.author Valcárcel, J. (Juan)
• dc.contributor.author Hentze, Matthias W.
• dc.date.accessioned 2021-01-26T11:34:34Z
• dc.date.available 2021-01-26T11:34:34Z
• dc.date.issued 2020
• dc.description.abstract RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their malfunction underlies the origin of many diseases. RBPs can recognize hundreds of transcripts and form extensive regulatory networks that help to maintain cell homeostasis. System-wide unbiased identification of RBPs has increased the number of recognized RBPs into the four-digit range and revealed new paradigms: from the prevalence of structurally disordered RNA-binding regions with roles in the formation of membraneless organelles to unsuspected and potentially pervasive connections between intermediary metabolism and RNA regulation. Together with an increasingly detailed understanding of molecular mechanisms of RBP function, these insights are facilitating the development of new therapies to treat malignancies. Here, we provide an overview of RBPs involved in human genetic disorders, both Mendelian and somatic, and discuss emerging aspects in the field with emphasis on molecular mechanisms of disease and therapeutic interventions.
• dc.description.sponsorship The authors acknowledge funding from the Spanish Ministry of Science and Innovation (MICINN; PGC2018-099697-B-I00 to F.G. and BFU2017-89308-P to J.V.), ‘la Caixa’ Foundation (ID 100010434 under the agreement LCF/PR/HR17/52150016 to F.G.), the Catalan Government (2017SGR534 to F.G. and J.V.) and the ERC (AdvG 670146 to J.V.) as well as the EMBL Partnership, the Severo Ochoa and CERCA Programs
• dc.format.mimetype application/pdf
• dc.identifier.citation Gebauer F, Schwarzl T, Valcárcel J, Hentze, M W. RNA-binding proteins in human genetic disease. Nat Rev Genet. 2020 Nov 24;22:185-98. DOI: 10.1038/s41576-020-00302-y
• dc.identifier.doi http://dx.doi.org/ 10.1038/s41576-020-00302-y
• dc.identifier.issn 1471-0056
• dc.identifier.uri http://hdl.handle.net/10230/46269
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Nature Reviews Genetics. 2020 Nov 24;22:185-98
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/BFU2017-89308-P
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/PGC2018-099697-B-I00
• dc.rights © Springer Nature Publishing AG. Gebauer F, Schwarzl T, Valcárcel J, Hentze, M W. RNA-binding proteins in human genetic disease. Nat Rev Genet. 2020 Nov 24. [epub ahead of print]. http://dx.doi.org/10.1038/s41576-020-00302-y
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.subject.other Genètica humana
• dc.subject.other Proteïnes portadores
• dc.subject.other RNA
• dc.subject.other Malalties congènites
• dc.title RNA-binding proteins in human genetic disease
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/acceptedVersion