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Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which produces the glucocerebrosidase (GCase) protein. There are more than 500 mutations reported in GBA1, among which L444P (p.Leu444Pro) and F213I (p.Phe213Ile) are the most common in th...

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Principais autores: Jia-ni Guo, Ming Guan, Nan Jiang, Na Li, Ya-jun Li, Jin Zhang, Duan Ma
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-05-01
coleção:Frontiers in Genetics
Assuntos:
Gaucher disease
GBA1 gene
F213I mutation
GD mouse model
partially humanized
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2022.892457/full
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