CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.

@article{Barone2016CSFNP,
  title={CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.},
  author={Rita Barone and Luisella Sturiale and Agata Fiumara and Angelo Palmigiano and Rosaria Ornella Bua and Renata Rizzo and Mario Zappia and D Garozzo},
  journal={Autism research : official journal of the International Society for Autism Research},
  year={2016},
  volume={9 4},
  pages={423-8}
}
Protein N-glycosylation consists in the synthesis and processing of the oligosaccharide moiety (N-glycan) linked to a protein and it serves several functions for the proper central nervous system (CNS) development and function. Previous experimental and clinical studies have shown the importance of proper glycoprotein sialylation for the synaptic function and the occurrence of autism spectrum disorders (ASD) in the presence of sialylation deficiency in the CNS. Late-onset Tay Sachs disease… CONTINUE READING
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