Geetika Aggarwal

Feb 2, 2024 | biorxiv.org | Denise Smith |Geetika Aggarwal |Michael Niehoff |Spencer Jones

AbstractHeterozygous loss-of-function mutations in the progranulin gene (GRN) are a major cause of frontotemporal dementia due to progranulin haploinsufficiency; complete deficiency of progranulin causes neuronal ceroid lipofuscinosis. Several progranulin-deficient mouse models have been generated, including both knockout mice and knockin mice harboring a common patient mutation (R493X). However, the GrnR493X mouse model has not been characterized completely.