… on progranulin (PGRN protein encoded by GRN gene) role in FTLD. Patients with progranulin
… Loss of the PGRN function can also be mediated by mutations affecting the protein sorting, …

… These findings suggest a role for ameboid microglia in the pathogenesis of both white … a
role.46 Lui and coworkers showed that progranulin knock-out mice have synaptic loss through …

… 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 . …

… Frontotemporal lobar degeneration (FTLD) is a collective term … and CSF of patients with a
loss-of-function GRN mutation (g.… Val411SerfsX2)) and presymptomatic loss-of-function GRN …

… 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 …

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

… 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 …

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