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

… are linked to frontotemporal lobar degeneration with TDP-43 positive inclusions (FTLD-TDP-…
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …

… caused by progranulin insufficiency and other diseases associated with progranulin, key
features of progranulin … measures used in preclinical studies on progranulin therapeutics. …

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

… readthrough of progranulin PTC mutation R493X. (A) Schematic diagram of WT progranulin
and PTC mutations examined in this … Null mutations in progranulin cause ubiquitin-positive …

… genetic causes of frontotemporal lobar degeneration (FTLD). Three major genes, namely
progranulin (… A targeted intervention in GRN mutations might be the replacement of progranulin …

… causes the fatal neurodegenerative disease frontotemporal … Over 60 mutations in the GRN
locus result in functional null … levels of the encoded protein, progranulin (PGRN). PGRN is a …

… genes that cause FTD or ALS when mutated encode proteins … that lysosomal dysfunction,
caused by genetic mutations (eg … focus on five important proteins (progranulin, C9orf72, TDP-…

… atypical FTLD with ubiquitin-positive inclusions, … of progranulin and its role in the inflammatory
response, the discovery that homozygous loss-of-function mutations in GRN could cause …

… The neuropathology observed in patients bearing progranulin (GRN) loss-of-function (LOF)
mutations is dictated by a gene dosage-dependent effect, with most haploinsufficient …