… Loss-of-function heterozygous mutations in GRN, the gene encoding progranulin (PGRN),
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two decades …

… mutations are loss-of-function mutations. GRN encodes the glycoprotein progranulin (PGRN…
, a lysosomal storage disorder, pointing to a role for PGRN in lysosomal homeostasis [6,20]. …

… of progranulin and its role in the inflammatory response, the discovery that homozygous
loss-of-function … independent support for an important role for progranulin in lysosomes 51,63 . …

… lack of protective factors is important in the pathogenesis of neurodegenerative dementia.
Progranulin … Pathological modifications of TDP-43 involve both the loss of its normal function in …

… Because mitochondria play a key role in ROS production and apoptotic cell death, we
studied the mitochondrial function in our in vitro GRN KD cellular model. To do so, we analyzed …

… The main pathogenic mechanism of GRN mutations arises from a loss of functional
progranulin, and strategies to restore progranulin haploinsufficiency have emerged as promising …

… Genetic deficiency from loss-of-function mutations and single-nucleotide polymorphisms
may cause a reduction in progranulin levels. Progranulin deficiency has been implicated in …

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

… in 2013 as short-term memory loss. He frequently forgot what … , which may lead to the loss
of one GRN allele. However, … about the partial damage of functional progranulin. The GRN …

… lost weight significantly. There were no complaints pertaining to impairments of memory and
visuospatial function. … that consisted of short phrases with lack of content, which was totally …