Cognitive impairment and progressive neuroinflammation in mucopolysaccharidosis IIIA mice expressing the R245H Sgsh variant
Adeline A. Lau, Paul J. Trim, Helen Beard, Ashleigh Lake, Barbara M. King, Marten F. Snel, Kim M. Hemsley
This paper generates a SgshR245H knock-in mouse model of MPS IIIA and reports its phenotypic features including neuroinflammation, cognitive deficits, and lipid abnormalities.
bioRxiv · Jul 15, 2026 · PreprintNeuroscience