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dc.contributor.authorBeraza Millor, Marina ORCID
dc.contributor.authorRodríguez Castejón, Julen
dc.contributor.authorDel Pozo Rodríguez, Ana ORCID
dc.contributor.authorRodríguez Gascón, Alicia
dc.contributor.authorSolinís Aspiazu, María Ángeles ORCID
dc.date.accessioned2024-10-08T16:50:57Z
dc.date.available2024-10-08T16:50:57Z
dc.date.issued2024-09
dc.identifier.citationBioDrugs 38(5) : 657-680 (2024)es_ES
dc.identifier.issn1173-8804
dc.identifier.issn1179-190X
dc.identifier.urihttp://hdl.handle.net/10810/69789
dc.description.abstractBackground Genetic substrate reduction therapy (gSRT), which involves the use of nucleic acids to downregulate the genes involved in the biosynthesis of storage substances, has been investigated in the treatment of lysosomal storage diseases (LSDs). Objective To analyze the application of gSRT to the treatment of LSDs, identifying the silencing tools and delivery systems used, and the main challenges for its development and clinical translation, highlighting the contribution of nanotechnology to overcome them. Methods A systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) reporting guidelines was performed. PubMed, Scopus, and Web of Science databases were used for searching terms related to LSDs and gene-silencing strategies and tools. Results Fabry, Gaucher, and Pompe diseases and mucopolysaccharidoses I and III are the only LSDs for which gSRT has been studied, siRNA and lipid nanoparticles being the silencing strategy and the delivery system most frequently employed, respectively. Only in one recently published study was CRISPR/Cas9 applied to treat Fabry disease. Specific tissue targeting, availability of relevant cell and animal LSD models, and the rare disease condition are the main challenges with gSRT for the treatment of these diseases. Out of the 11 studies identified, only two gSRT studies were evaluated in animal models. Conclusions Nucleic acid therapies are expanding the clinical tools and therapies currently available for LSDs. Recent advances in CRISPR/Cas9 technology and the growing impact of nanotechnology are expected to boost the clinical translation of gSRT in the near future, and not only for LSDs.es_ES
dc.description.sponsorshipThis research was funded by MCIU/AEI/FEDER,UE, grant number RTI2018-098672-B-I00, and by the Basque Government, grant number IT1587-22, GIC21/34. The research grants of M. Beraza-Millor (PIF21/61) and J. Rodríguez-Castejón (PRE_2020_2_01164) were funded by the University of Basque Country UPV/EHU and the Basque Government, respectively.es_ES
dc.language.isoenges_ES
dc.publisherSpringer Naturees_ES
dc.relationinfo:eu-repo/grantAgreement/MICIU/RTI2018-098672-B-I00es_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/es/*
dc.titleSystematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systemses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.rights.holder© The Author(s) 2024. This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.es_ES
dc.relation.publisherversionhttps://link.springer.com/article/10.1007/s40259-024-00674-1es_ES
dc.identifier.doi10.1007/s40259-024-00674-1
dc.departamentoesFarmacia y ciencias de los alimentoses_ES
dc.departamentoeuFarmazia eta elikagaien zientziakes_ES


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© The Author(s) 2024.  This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.
Except where otherwise noted, this item's license is described as © The Author(s) 2024. This article is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc/4.0/.