Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins
TianMeng Xu, Rachel Heon‐Roberts, Travis Moore, Patricia Dubot, Xuefang Pan, Tianlin Guo, Christopher W. Cairo, Rebecca J. Holley, Brian Bigger, Thomas M. Durcan, Thierry Levade, Jérôme Ausseil, Bénédicte Amilhon, Alexei Gorelik, Bhushan Nagar, , Alexey 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.
Journal of Clinical Investigation · Jun 17, 2025Peer-reviewedBiochemistry