The discovery that heterozygous and homozygous mutations in the gene encoding
progranulin are causally linked to frontotemporal dementia and lysosomal storage disease …

Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. Until recently, the underlying cause was known in only a minority of cases that were …

Progranulin (PGRN), encoded by the GRN gene in humans, is a secreted growth factor
implicated in a multitude of processes ranging from regulation of inflammation to wound …

Mutations in TARDBP, encoding TAR DNA-binding protein-43 (TDP-43), are associated with
TDP-43 proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotemporal …

While histological changes in microglia have long been recognized as a pathological
feature of Alzheimer's disease (AD), recent genetic association studies have also strongly …

Progranulin, a secreted glycoprotein, is encoded in humans by the single GRN gene.
Progranulin consists of seven and a half, tandemly repeated, non-identical copies of the 12 …

Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders
characterized by cognitive and behavioral impairments. Heterozygous mutations in …

Loss-of-function mutations in the progranulin gene are a common cause of familial
frontotemporal dementia (FTD). The purpose of this review is to summarize the role of …

Loss-of-function mutations in GRN cause frontotemporal dementia (FTD) with transactive
response DNA-binding protein of 43 kD (TDP-43)–positive inclusions and neuronal ceroid …

Loss of function mutations in progranulin (GRN) cause frontotemporal dementia, but how
GRN haploinsufficiency causes neuronal dysfunction remains unclear. We previously …