Neuronopathic Gaucher disease: Beyond lysosomal dysfunction

Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme β-glucocerebrosidase (β-GC). β-GC hydrolyzes glucosylceramide (GluCer) into glucose and ceramide in the lysosome, and the loss of its activity leads to GluCer accumulation i...

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Detalles Bibliográficos
Autores principales: Arévalo, Nohela B., Lamaizon, Cristian M., Cavieres, Viviana A., Burgos, Patricia V., Álvarez, Alejandra R., Yañez, María J., Zanlungo, Silvana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381931/
https://www.ncbi.nlm.nih.gov/pubmed/35992201
http://dx.doi.org/10.3389/fnmol.2022.934820

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381931/
https://www.ncbi.nlm.nih.gov/pubmed/35992201
http://dx.doi.org/10.3389/fnmol.2022.934820

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