Denise Smith

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.

Nov 8, 2023 | firehouse.com | Denise Smith

Sudden cardiac events are the leading acute cause of line-of-duty deaths, resulting in far more fatalities in most years than burns, asphyxiation, or collapse combined. A large percentage of duty-related cardiac fatalities occur during or shortly after firefighting activities indicating that the work firefighters do can trigger a cardiac event.