Haploinsufficiency of progranulin (PGRN) due to mutations in the granulin (GRN) gene
causes frontotemporal lobar degeneration (FTLD), and complete loss of PGRN leads to a …

Mutations in the progranulin (PGRN) gene have been linked to two distinct
neurodegenerative diseases, frontotemporal lobar degeneration (FTLD) and neuronal …

Frontotemporal dementia (FTD) is a common neurogenerative disorder characterized by
progressive degeneration in the frontal and temporal lobes. Heterozygous mutations in the …

The frontotemporal lobar degeneration (FTLD) protein progranulin (PGRN) is essential for
proper lysosomal function. PGRN localizes in the lysosomal compartment within the cell …

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

Haploinsufficiency of the progranulin protein is a leading cause of frontotemporal lobar
degeneration. Accumulating evidence support a crucial role of progranulin in the lysosome …

Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the
PGRN gene causes frontotemporal lobar degeneration accompanied by TDP-43 …

Background Heterozygous loss-of-function mutations in the progranulin gene (GRN) lead to
frontotemporal lobar degeneration (FTLD) while the complete loss of progranulin (PGRN) …

Homozygous or heterozygous mutations in the GRN gene, encoding progranulin (PGRN),
cause neuronal ceroid lipofuscinosis (NCL) or frontotemporal dementia (FTD), respectively …

Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-
dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar …