Induced pluripotent stem cell modeling of Gaucher's disease: what have we learned?

Gaucher's disease (GD) is the most frequently inherited lysosomal storage disease, presenting both visceral and neurologic symptoms. Mutations in acid beta-glucocerebrosidase disrupt the sphingolipid catabolic pathway promoting glucosylceramide (GlcCer) accumulation in lysosomes. Current treatm...

Full description

Bibliographic Details
Main Author: Santos Matias, Dino (author)
Other Authors: Tiscornia, Gustavo (author)
Format: article
Language:eng
Published: 2018
Subjects:
Acid-Beta-glucosidase
Glucocerebrosidase gene-mutations
Lysosomal storage diseases
Parkinsons-disease
Alpha-synuclein
Mouse model
Pharmacological chaperones
Targeted disruption
Calcium homeostasis
Down-regulation
Online Access:http://hdl.handle.net/10400.1/11082
Country:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/11082

Internet

http://hdl.handle.net/10400.1/11082

Similar Items