Search Results - "Gaudioso, Ángel"

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    Models to study basic and applied aspects of lysosomal storage disorders by Gaudioso, Ángel, Silva, Teresa P., Dolores Ledesma, María

    Published in Advanced drug delivery reviews (01-11-2022)
    “…© 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). The lack…”
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    Journal Article
  2. 2

    Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency by Gaudioso, Ángel, Moreno-Huguet, Pilar, Casas, Josefina, Schuchman, Edward H, Ledesma, María Dolores

    “…Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the gene-encoding acid sphingomyelinase (ASM). ASMD impacts…”
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  3. 3

    Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency by Gaudioso, Ángel, Jiang, Xuntian, Casas, Josefina, Schuchman, Edward H., Ledesma, María Dolores

    Published in Cell death & disease (06-04-2023)
    “…Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the SMPD1 gene encoding for the acid sphingomyelinase (ASM)…”
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    Journal Article
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    Lipidomic Alterations in the Mitochondria of Aged Parkin Null Mice Relevant to Autophagy by Gaudioso, Angel, Garcia-Rozas, Patricia, Casarejos, Maria Jose, Pastor, Oscar, Rodriguez-Navarro, Jose Antonio

    Published in Frontiers in neuroscience (24-04-2019)
    “…Mitochondrial quality control is important in neurological diseases, but in genetic Parkinson's disease caused by mutations in PINK and parkin mitochondrial…”
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    Journal Article
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