Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay

AD Nguyen, TA Nguyen, J Zhang… - Proceedings of the …, 2018 - National Acad Sciences
Frontotemporal dementia (FTD) is the most common neurodegenerative disorder in
individuals under age 60 and has no treatment or cure. Because many cases of FTD result …

Genetic regulation of neuronal progranulin reveals a critical role for the autophagy-lysosome pathway

LP Elia, AR Mason, A Alijagic… - Journal of …, 2019 - Soc Neuroscience
Deficient progranulin levels cause dose-dependent neurological syndromes:
haploinsufficiency leads to frontotemporal lobar degeneration (FTLD) and nullizygosity …

Gene expression study on peripheral blood identifies progranulin mutations

G Coppola, A Karydas, R Rademakers… - Annals of Neurology …, 2008 - Wiley Online Library
Peripheral blood is a readily available tissue source allowing relatively noninvasive
screening for a host of medical conditions. We screened total‐blood progranulin (PGRN) …