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Author: search.filters.author.Boris Rebolledo-JaramilloSubject: search.filters.subject.enzyme activity

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    Item type:Publication,
    Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity
    (2021)
    Anyelo Durán
    ;
    Boris Rebolledo-Jaramillo
    ;
    Valeria Olguin
    ;
    Marcelo Rojas-Herrera
    ;
    Macarena Las Heras
    Scopus© Citations 6  2
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    Item type:Publication,
    A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids
    (2023)
    Anyelo Durán
    ;
    David A. Priestman
    ;
    Macarena Las Las Heras
    ;
    Boris Rebolledo-Jaramillo
    ;
    Valeria Olguín
    <jats:p>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.</jats:p>
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