Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes

Gaucher’s disease (GD) is the most prevalent lysosomal storage disorder. GD is caused by homozygous mutations of the GBA1 gene, which codes for beta-glucocerebrosidase (GCase). Although GD primarily affects peripheral tissues, the presence of neurological symptoms has been reported in several GD sub...

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Detalles Bibliográficos
Autores principales: Franco, Rafael, Sánchez-Arias, Juan A., Navarro, Gemma, Lanciego, José L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031742/
https://www.ncbi.nlm.nih.gov/pubmed/30002620
http://dx.doi.org/10.3389/fnana.2018.00052

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031742/
https://www.ncbi.nlm.nih.gov/pubmed/30002620
http://dx.doi.org/10.3389/fnana.2018.00052

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