Article
D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model.
Acta neuropathologica communications - 27 Apr 2018
Kim Donghoon, Hwang Heehong, Choi Seulah, Kwon Sang Ho, Lee Suhyun, Park Jae Hong, Kim SangMin, Ko Han Seok
Abstract excerpt
Heterozygous mutations in glucocerebrosidase 1 (GBA1) are a major genetic risk factor for Parkinson's disease and Dementia with Lewy bodies. Mutations in GBA1 leads to GBA1 enzyme deficiency, and GBA1-associated parkinsonism has an earlier age of onset and more progressive parkinsonism. To investigate a potential influence of GBA1 deficiency caused by mutations in GBA1 on the disease progression of PD, GBA1 mice...
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