<i>Drosophila melanogaster</i> Mutated in its <i>GBA1b</i> Ortholog Recapitulates Neuronopathic Gaucher Disease

<i>Drosophila melanogaster</i> Mutated in its <i>GBA1b</i> Ortholog Recapitulates Neuronopathic Gaucher Disease

Gaucher disease (GD) results from mutations in the <i>GBA1</i> 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, t...

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Bibliographic Details
Main Authors: Or Cabasso, Sumit Paul, Orly Dorot, Gali Maor, Olga Krivoruk, Metsada Pasmanik-Chor, Mina Mirzaian, Maria Ferraz, Johannes Aerts, Mia Horowitz
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:Journal of Clinical Medicine
Subjects:
Gaucher disease
glucocerebrosidase
GlcCer
GlcSph
inflammation
unfolded protein response
Online Access:https://www.mdpi.com/2077-0383/8/9/1420

Internet

https://www.mdpi.com/2077-0383/8/9/1420

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