Background Progranulin loss-of-function mutations are linked to frontotemporal lobar
degeneration with TDP-43 positive inclusions (FTLD-TDP-Pgrn). Progranulin (PGRN) is an …

Background Mutations resulting in progranulin (PGRN) haploinsufficiency cause
frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), a …

GRN mutations cause frontotemporal lobar degeneration with TDP-43-positive inclusions.
The mechanism of pathogenesis is haploinsufficiency. Recently, homozygous GRN …

Progranulin is a highly conserved secreted protein that is expressed in multiple cell types,
both in the CNS and in peripheral tissues. Both directly and via its conversion to granulins …

It has been more than a decade since heterozygous loss-of-function mutations in the
progranulin gene (GRN) were first identified as an important genetic cause of frontotemporal …

Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the
PGRN gene causes frontotemporal lobar degeneration accompanied by TDP-43 …

Homozygous or heterozygous mutations in the GRN gene, encoding progranulin (PGRN),
cause neuronal ceroid lipofuscinosis (NCL) or frontotemporal dementia (FTD), respectively …

Progranulin (PGRN) haploinsufficiency from autosomal dominant mutations in the PGRN
gene causes frontotemporal lobar degeneration, which is characterized by cytoplasmic …

Heterozygous, loss-of-function mutations in the granulin gene (GRN) encoding progranulin
(PGRN) are a common cause of frontotemporal dementia (FTD). Homozygous GRN …

Mutations in the human progranulin gene resulting in protein haploinsufficiency cause
frontotemporal lobar degeneration with TDP-43 inclusions. Although progress has been …