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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


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