Search Results - "Gaudioso, Ángel"
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Models to study basic and applied aspects of lysosomal storage disorders
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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Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency
Published in International journal of molecular sciences (05-06-2023)“…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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Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency
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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Neurons regulate the esterification of bioactive lipid mediators in the brain of acid sphingomyelinase deficient mice
Published in Progress in neuro-psychopharmacology & biological psychiatry (08-02-2024)“…Acid sphingomyelinase deficiency is a neurodegenerative lysosomal storage disorder caused by mutations in the sphingomyelin-degrading enzyme acid…”
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Pathway-Specific Control of Striatal Neuron Vulnerability by Corticostriatal Cannabinoid CB1 Receptors
Published in Cerebral cortex (New York, N.Y. 1991) (01-01-2018)“…Abstract The vast majority of neurons within the striatum are GABAergic medium spiny neurons (MSNs), which receive glutamatergic input from the cortex and…”
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Lipidomic Alterations in the Mitochondria of Aged Parkin Null Mice Relevant to Autophagy
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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Sphingomyelin 16:0 is a therapeutic target for brain pathology in acid sphingomyelinase deficiency
Published in Molecular genetics and metabolism (01-02-2023)Get full text
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