Article
Impact of Gba2 on neuronopathic Gaucher's disease and α-synuclein accumulation in medaka (Oryzias latipes).
Molecular brain - 10 May 2021
Nakanishi Etsuro, Uemura Norihito, Akiyama Hisako, Kinoshita Masato, Masanori Sawamura, Taruno Yosuke, Yamakado Hodaka, Matsuzawa Shu-Ichi, Takeda Shunichi, Hirabayashi Yoshio, Takahashi Ryosuke
Abstract excerpt
Homozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher's disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson's disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn) aggregates. We previously reported that gba1 knockout (KO) medaka exhibited glucosylceramide accumulation and neuronopathic GD phenotypes, including short...
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