… Heterozygous loss-of-function (LOF) mutations in the human progranulin gene (GRN) cause
… Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …

… protein tau mutation, GRN progranulin mutation, C9orf72 … dominant mutations in the human
VCP gene cause … cytosolic and nuclear ubiquitin-positive neuronal aggregates containing …

… main components of the ubiquitin-positive inclusions typical of the GRN mutated families as
well … Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to …

… 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 …

… mutations in GRN, the gene that encodes progranulin, are causally linked to a familial form of
frontotemporal lobar degeneration … consisting of ubiquitin-positive protein aggregates in the …

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

… mutation-related FTLD, an important subgroup of FTLD-TDP [12, 13]. However, progranulin
… , independent of GRN mutations [14], and this might be reflected in progranulin levels in CSF …

… Loss-of-function mutations in progranulin (GRN) cause neurodegenerative disease with
a … GRN mutations are among the leading causes of dominantly inherited frontotemporal …

… 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 …

… mutation resulting in frontotemporal lobar degeneration with a distinct clinical phenotype,
and we review reports of GRN mutations … Null mutations in progranulin cause ubiquitin-positive …