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.

This study tests a novel substrate reduction therapy using a GlcNAc analogue inhibitor in Sanfilippo syndrome models, showing reduced heparan sulfate accumulation in cells and Drosophila.

The paper compares transcriptome and proteome changes in zebrafish models of early-onset familial Alzheimer's disease and Sanfilippo syndrome, identifying shared disease pathways.

This study creates zebrafish models of MPS IIIA, IIIB, and IIIC, revealing hyperactivity, neuroinflammation, and oligodendrocyte changes similar to human disease.