A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase leads to accumulation of glucosylceramide and glycosylsphingosine in various c...

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Detalles Bibliográficos
Autores principales: Westbroek, Wendy, Nguyen, Matthew, Siebert, Marina, Lindstrom, Taylor, Burnett, Robert A., Aflaki, Elma, Jung, Olive, Tamargo, Rafael, Rodriguez-Gil, Jorge L., Acosta, Walter, Hendrix, An, Behre, Bahafta, Tayebi, Nahid, Fujiwara, Hideji, Sidhu, Rohini, Renvoise, Benoit, Ginns, Edward I., Dutra, Amalia, Pak, Evgenia, Cramer, Carole, Ory, Daniel S., Pavan, William J., Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958308/
https://www.ncbi.nlm.nih.gov/pubmed/27482815
http://dx.doi.org/10.1242/dmm.024588

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958308/
https://www.ncbi.nlm.nih.gov/pubmed/27482815
http://dx.doi.org/10.1242/dmm.024588

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