Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye

Gaucher disease (GD) is the most common of the lysosomal storage disorders and is caused by defects in the GBA gene encoding glucocerebrosidase (GlcCerase). The accumulation of its substrate, glucocylceramide (GlcCer) is considered the main cause of GD. We found here that the expression of human mut...

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Hlavní autoři: Suzuki, Takahiro, Shimoda, Masami, Ito, Kumpei, Hanai, Shuji, Aizawa, Hidenobu, Kato, Tomoki, Kawasaki, Kazunori, Yamaguchi, Terumi, Ryoo, Hyung Don, Goto-Inoue, Naoko, Setou, Mitsutoshi, Tsuji, Shoji, Ishida, Norio
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3732251/
https://ncbi.nlm.nih.gov/pubmed/23936319
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0069147
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