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

Abstract excerpt

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 may drive frontotemporal dementia pathogenesis by disrupting lysosomal function, as patients with GRN mutations...

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