… in progranulin (PGRN) protein haploinsufficiency, are a major cause of frontotemporal lobar
degeneration … Heterozygous loss-of-function mutations in GRN, the progranulin gene, are …

… 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, …

… familial Frontotemporal Lobar Degeneration. Granulin transcript haploinsufficiency has been
proposed as a disease mechanism that leads to the loss of functional progranulin protein. …

… functional analyses to determine whether these missense GRN mutations induce functional
… The proband's sister (III-9) presented at age 62 years with slow-onset loss of initiative and …

… regarding the role of progranulin in neurodegeneration by … strong association between
progranulin deficiency and reduction … It could explain, in part, the dramatic synaptic loss we found …

… 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 (LOF) mutations in the human progranulin gene (GRN) cause frontotemporal
lobar degeneration … Patients present most frequently with frontotemporal dementia, which is …

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

… , progranulin may play a pathophysiological role in the brain as well, independent of GRN
mutations [14], and this might be reflected in progranulin … By confirming the lack of significant …

… 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]. …