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...

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Detalhes bibliográficos
Autor principal: Santos Matias, Dino (author)
Outros Autores: Tiscornia, Gustavo (author)
Formato: article
Idioma:eng
Publicado em: 2018
Assuntos:
Acid-Beta-glucosidase
Glucocerebrosidase gene-mutations
Lysosomal storage diseases
Parkinsons-disease
Alpha-synuclein
Mouse model
Pharmacological chaperones
Targeted disruption
Calcium homeostasis
Down-regulation
Texto completo:http://hdl.handle.net/10400.1/11082
País:Portugal
Oai:oai:sapientia.ualg.pt:10400.1/11082

Texto Completo

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

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