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...

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Bibliographic Details
Main Author: Coutinho, Maria Francisca (author)
Other Authors: 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)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Lysosomal Storage Diseases
SCARB2
Gaucher Disease
Parkinson
Doenças Genéticas
Genética Humana
Online Access:http://hdl.handle.net/10400.18/6290
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6290

Internet

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

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