Dr. Alex Hull, a researcher in the Kinghorn Lab, has published an important new paper in Human Molecular Genetics, providing fresh insights into the molecular mechanisms of a rare lysosomal storage disorder, Types A and B Niemann-Pick disease, which is linked to Parkinson’s disease.
The study, titled "Ceramide lowering rescues respiratory defects in a Drosophila model of acid sphingomyelinase deficiency," sheds light on the critical role of ceramides in driving respiratory dysfunction associated with Niemann-Pick disease. Notably, it identifies FDA-approved drugs as potential novel therapeutic strategies, that can now be tested in accelerated clinical trials.
This research represents a significant step forward in understanding and addressing the cellular pathologies associated with Niemann-Pick disease. Read the full paper here.