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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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Detalles Bibliográficos
Autores principales: Cabasso, Or, Paul, Sumit, Dorot, Orly, Maor, Gali, Krivoruk, Olga, Pasmanik-Chor, Metsada, Mirzaian, Mina, Ferraz, Maria, Aerts, Johannes, Horowitz, Mia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6780790/
https://www.ncbi.nlm.nih.gov/pubmed/31505865
http://dx.doi.org/10.3390/jcm8091420