Marten F. Snel

STILL-13C maps lipid metabolic flux in intact human tissues using isotopic labeling and MSI, revealing spatial heterogeneity in lipid pathways and responses to inhibition.

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.