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July 15, 2025

ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG

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Authors

RSRameen ShahRBRohit BudhrajaSRSilvia Radenkovic

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Overview

Research demonstrates altered glycosylation and impaired neuronal maturation in iPSC-derived cortical organoids, suggesting impacts on brain network activity.

Key Points

  • ALG13-CDG models show significant glycosylation defects affecting critical proteins for neuronal function.
  • Multiomics analysis revealed dysregulation in pathways linked to neuronal development and excitatory/inhibitory balance.
  • Electrophysiological recordings indicated network hypoactivity with reduced neuron firing rates and immature dynamics.
  • The findings provide insights into potential therapeutic targets for CDG and related disorders with similar neurological traits.

Cite This Study

Shah et al. (2025) studied this question.

synapsesocial.com/papers/689a02bce6551bb0af8cc7c2https://doi.org/10.1101/2025.07.09.663964
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