Engineering synthetic and recombinant human lysosomal β-glucocerebrosidase for enzyme replacement therapy for Gaucher disease

Engineering synthetic and recombinant human lysosomal β-glucocerebrosidase for enzyme replacement therapy for Gaucher disease

Abstract Gaucher Disease (GD) is an autosomal recessive, lysosomal storage disease caused by pathogenic variants in the glucocerebrosidase gene, leading to the loss of β-glucocerebrosidase (GCase) enzymatic activity. Enzyme replacement therapy (ERT) with recombinant GCase is the standard of care in...

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Bibliographic Details
Main Authors: Lílian L. Souza Figueiredo, Wilson Lau Junior, Victor Wendel da Silva Goncalves, Ester Silveira Ramos, Vania D’Almeida, Lucas Eduardo Botelho de Souza, Maristela Delgado Orellana, Kuruvilla Joseph Abraham, Flávio Lichtenstein, Lucas Bleicher, Vasco Azevedo, Rigoberto Gadelha Chaves, Giuliano Bonfá, Velia Siciliano, Ron Weiss, Stanton Gerson, Aparecida Maria Fontes
Format: Article
Language:English
Published: Springer 2024-10-01
Series:Discover Applied Sciences
Subjects:
Gaucher disease
Glucocerebrosidase
Synthetic biology
In silico molecular evolution
Signal peptide
Enzyme coevolution
Online Access:https://doi.org/10.1007/s42452-024-06227-z

Internet

https://doi.org/10.1007/s42452-024-06227-z

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