Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations

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...

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Bibliographic Details
Main Authors: Andrew E. Arrant, Jonathan R. Roth, Nicholas R. Boyle, Shreya N. Kashyap, Madelyn Q. Hoffmann, Charles F. Murchison, Eliana Marisa Ramos, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, Bruce L. Miller, William W. Seeley, Erik D. Roberson
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Acta Neuropathologica Communications
Subjects:
Progranulin
Lysosome
β-Glucocerebrosidase
Glycosphingolipid
Frontotemporal dementia
Neuronal Ceroid Lipofuscinosis
Online Access:https://doi.org/10.1186/s40478-019-0872-6

Internet

https://doi.org/10.1186/s40478-019-0872-6

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