Article
Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye.
PloS one - 1 Jan 2013
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
Abstract excerpt
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 mutated GlcCerase gene (hGBA) that is associated with neuronopathy in GD patients causes neurodevelopmental defects in...
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