Article
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG
2025-07-15
Abstract excerpt
<h4>Background</h4> Congenital disorders of glycosylation (CDGs) are a group of rare metabolic diseases recognized for their neurological presentations, including developmental delay and seizures. However, the link between glycosylation defects and cortical brain network pathology remains elusive. <h4>Methods</h4> To address this unmet need, we generated iPSC derived human cortical organoids (hCOs) for ALG13-CDG...
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Identifiers and source
- Literature Corpus work
- 8e934f50-5634-591d-a5f7-363cb3184104
- DOI
- 10.1101/2025.07.09.663964
