Chemical and genetic rescue of in vivo progranulin-deficient lysosomal and autophagic defects.

ABSTRACT: In 2006, GRN mutations were first linked to frontotemporal dementia (FTD), the leading cause of non-Alzheimer dementias. While much research has been dedicated to understanding the genetic causes of the disease, our understanding of the mechanistic impacts of GRN deficiency has only recently begun to take shape. With no known cure or treatment available for GRN-related FTD, there is a growing need to rapidly advance genetic and/or small-molecule therapeutics for this disease. This issue is complicated by the fact that, while lysosomal dysfunction seems to be a key driver of pathology, the mechanisms linking a loss of GRN to a pathogenic state remain unclear. In our attempt to address these key issues, we have turned to the nematode, Caenorhabditis elegans, to model, study, and find potenti

SUBMITTER: Doyle JJ 

PROVIDER: S-EPMC8237633 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature