Animal Models for the Study of Gaucher Disease

In Gaucher disease (GD), a relatively common sphingolipidosis, the mutant lysosomal enzyme acid β-glucocerebrosidase (GCase), encoded by the GBA1 gene, fails to properly hydrolyze the sphingolipid glucosylceramide (GlcCer) in lysosomes, particularly of tissue macrophages. As a result, GlcCer accumul...

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Detalles Bibliográficos
Autores principales: Cabasso, Or, Kuppuramalingam, Aparna, Lelieveld, Lindsey, Van der Lienden, Martijn, Boot, Rolf, Aerts, Johannes M., Horowitz, Mia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671165/
https://www.ncbi.nlm.nih.gov/pubmed/38003227
http://dx.doi.org/10.3390/ijms242216035

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