Mahsa Taherzadeh

This study describes a mouse model of DHDDS-CDG, showing seizures, myoclonus, and cognitive deficits linked to glycosylation defects and interneuron abnormalities.

The paper shows that extracellular vesicles from HGSNAT-overexpressing cells can rescue MPS IIIC neuron defects by delivering the enzyme to lysosomes.

The paper tests a synthetic peptide ACTH(4-7)PGP in MPS III mouse models, showing it improves synaptic function, reduces neuroinflammation, and extends lifespan.

This study investigates white matter injury in Sanfilippo disease using mouse models and human samples, revealing demyelination and specific MRI markers for disease progression.