Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins
T. Xu, R. Heon-Roberts, T. Moore, P. Dubot, X. Pan, T. Guo, C. W. Cairo, R. Holley, B. Bigger, T. Durcan, T. Levade, J. Ausseil, B. Amilhon, A. Gorelik, B. Nagar, , A. V. Pshezhetsky
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.
bioRxiv · Apr 26, 2024 · PreprintBiochemistry