Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG

Background: ALG13-CDG is an X-linked N-linked glycosylation disorder caused by pathogenic variants in the glycosyltransferase ALG13, leading to severe neurological manifestations. Despite the clear CNS involvement, the impact of ALG13 dysfunction on human brain glycosylation and neurodevelopment rem...

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Principais autores:	Rameen Shah, Rohit Budhraja, Silvia Radenkovic, Graeme Preston, Alexia Tyler King, Sahar Sabry, Charlotte Bleukx, Ibrahim Shammas, Lyndsay Young, Jisha Chandran, Seul Kee Byeon, Ronald Hrstka, Doughlas Y. Smith, Nathan P. Staff, Richard Drake, Steven A. Sloan, Akhilesh Pandey, Eva Morava, Tamas Kozicz
Formato:	Artigo
Idioma:	Inglês
Publicado:	MDPI AG 2026-01-01
Series:	Cells
Assuntos:	congenital disorders of glycosylation (CDG) ALG13 deficiency N-linked glycosylation cortical brain organoids infantile spasms and epilepsy excitatory–inhibitory imbalance
Acceso en liña:	https://www.mdpi.com/2073-4409/15/2/147
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