We are excited to share our new research showing that pharmacological modulation of ceramide is a potential therapeutic approach in lysosomal storage disorders, such as Niemann-Pick disease, caused by SMPD1 mutations.
You can view the work here: https://www.biorxiv.org/content/10.1101/2024.04.18.589892v1.
Left: A healthy fly embryo showing a normal air-filled respiratory tract.
Right: Embryos lacking SMPD1 display no air filling of their respiratory tract.
This is similar to the lung disease seen in patients with Types A and B Niemann-Pick disease, caused by mutations in SMPD1.