Mostrar el registro sencillo del ítem
dc.contributor.author | Durán, Anyelo | |
dc.contributor.author | Priestman, David A. | |
dc.contributor.author | Las Heras, Macarena | |
dc.contributor.author | Rebolledo-Jaramillo, Boris | |
dc.contributor.author | Olguín, Valeria | |
dc.contributor.author | Calderón, Juan F. | |
dc.contributor.author | Zanlungo, Silvana | |
dc.contributor.author | Gutiérrez, Jaime | |
dc.contributor.author | Platt, Frances M. | |
dc.contributor.author | Klein, Andrés D. | |
dc.date.accessioned | 2024-09-26T00:43:31Z | |
dc.date.available | 2024-09-26T00:43:31Z | |
dc.date.issued | 2023-03 | |
dc.identifier.issn | 1661-6596 | |
dc.identifier.uri | https://repositorio.uss.cl/handle/uss/13271 | |
dc.description | Funding Information: This work was supported by ANID-CHILE: Fondecyt grant No 1180337 (A.D.K.) (2018–2022), 1190334 (S.Z.) (2019–2023), EQM190110 and ACT210012 (J.F.C.), EQM150093 (B.R.-J.) and 1221362 (J.G.) (2022–2025). LysoMod, funded by the European Union’s Horizon 2020 research and innovation programme (RISE) under the Marie Sklodowska-Curie grant agreement No 734825 (S.Z., F.M.P., A.D.K.) (2017–2022), and the Mizutani Foundation for Glycoscience, grant No: 200133 (F.M.P., D.A.P., A.D.K.) (2020). F.M.P. is a Wolfson Royal Society Merit Award Holder and a Wellcome Trust Investigator in science. Publisher Copyright: © 2023 by the authors. | |
dc.description.abstract | Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders (LSDs). To this end, we used a systems genetics approach: we measured 11 hepatic lysosomal enzymes and many of their natural substrates (GSLs), followed by modifier gene mapping by GWAS and transcriptomics associations in a panel of inbred strains. Unexpectedly, most GSLs showed no association between their levels and the enzyme activity that catabolizes them. Genomic mapping identified 30 shared predicted modifier genes between the enzymes and GSLs, which are clustered in three pathways and are associated with other diseases. Surprisingly, they are regulated by ten common transcription factors, and their majority by miRNA-340p. In conclusion, we have identified novel regulators of GSL metabolism, which may serve as therapeutic targets for LSDs and may suggest the involvement of GSL metabolism in other pathologies. | en |
dc.language.iso | eng | |
dc.relation.ispartof | vol. 24 Issue: no. 5 Pages: | |
dc.source | International Journal of Molecular Sciences | |
dc.title | A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids | en |
dc.type | Artículo | |
dc.identifier.doi | 10.3390/ijms24054915 | |
dc.publisher.department | Facultad de Ciencias de la Salud | |
dc.publisher.department | Facultad de Medicina y Ciencia |
Ficheros | Tamaño | Formato | Ver |
---|---|---|---|
No hay ficheros asociados a este ítem. |