Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-019-0872-6
Abstract: Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation carriers. Progranulin haploinsufficiency… read more here.
Keywords: frontotemporal dementia; glucocerebrosidase activity; grn; glucocerebrosidase ... See more keywords