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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Veröffentlicht in:J Clin Med
Hauptverfasser: Cabasso, Or, Paul, Sumit, Dorot, Orly, Maor, Gali, Krivoruk, Olga, Pasmanik-Chor, Metsada, Mirzaian, Mina, Ferraz, Maria, Aerts, Johannes, Horowitz, Mia
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2019
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Article
Online Zugang: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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