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Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease

Gaucher disease (GD) results from mutations in the GBA1 gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of mutations known to date in the gene lead to a heterogeneous disorder, which is divided into a non-neuronopathic, type 1 GD, and two neurological, type 2 and type 3, f...

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Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: Cabasso, Or, Paul, Sumit, Dorot, Orly, Maor, Gali, Krivoruk, Olga, Pasmanik-Chor, Metsada, Mirzaian, Mina, Ferraz, Maria, Aerts, Johannes, Horowitz, Mia
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6780790/
https://ncbi.nlm.nih.gov/pubmed/31505865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8091420
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