SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place?

Unlike most lysosomal proteins, β-glucocerebrosidase (GCase), the hydrolase defective in Gaucher disease (GD), is delivered to lysosomes through its interaction with the transmembrane protein LIMP2. A few years ago, mutations in its coding gene, SCARB2, were reported to modify the severity of GD phe...

ver descrição completa

Detalhes bibliográficos
Autor principal: Coutinho, Maria Francisca (author)
Outros Autores: Lacerda, L. (author), Gaspar, A. (author), Pinto, E. (author), Ribeiro, I. (author), Laranjeira, F. (author), Ribeiro, H. (author), Silva, E. (author), Ferreira, C. (author), Prata, M.J. (author), Alves, S. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2019
Assuntos:
Lysosomal Storage Diseases
SCARB2
Gaucher Disease
Parkinson
Doenças Genéticas
Genética Humana
Texto completo:http://hdl.handle.net/10400.18/6290
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6290

Texto Completo

http://hdl.handle.net/10400.18/6290

Registros relacionados