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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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Dettagli Bibliografici
Pubblicato in:J Clin Med
Autori principali: Cabasso, Or, Paul, Sumit, Dorot, Orly, Maor, Gali, Krivoruk, Olga, Pasmanik-Chor, Metsada, Mirzaian, Mina, Ferraz, Maria, Aerts, Johannes, Horowitz, Mia
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
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Accesso online: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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