Alexey V. Pshezhetsky

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

This study shows that inhibiting macrophage NEU1 reduces platelet clearance in ITP by limiting phagocytosis, suggesting NEU1 as a therapeutic target.

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 shows that reduced NEU1 activity in neurological MPS leads to hypersialylation of brain glycoproteins, contributing to CNS pathology through disrupted synaptogenesis and behavior.

This study shows that inhibiting cathepsin B reduces amyloid deposits in mouse models of lysosomal diseases, suggesting it as a potential therapeutic target.

This study shows that heterologous HSPC transplantation reduces neuroinflammation and improves peripheral symptoms in a mouse model of MPS IIIC, but does not correct lysosomal storage in neurons.

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

This study shows that lysosomal storage diseases cause synaptic structure and neurotransmission defects before cognitive symptoms appear in mice and humans.