MAN2A2-related glycosylation defects in autism and cognitive delay

MAN2A2-related glycosylation defects in autism and cognitive delay

Abstract Glycosylation is a post-translational modification essential for proper protein folding and function, with significant roles in diverse biological processes, including neurogenesis. MAN2A2 enzyme is required for proper N-glycan trimming/maturation in the N-glycosylation pathway. Whole-exome...

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Main Authors: Simone Treccarichi, Mirella Vinci, Lara Cirnigliaro, Angela Messina, Angelo Palmigiano, Fabio Pettinato, Antonino Musumeci, Valeria Chiavetta, Salvatore Saccone, Luisa Sturiale, Francesco Calì, Rita Barone
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Congenital disorders of glycosylation
MAN2A1/MAN2A2 alpha-mannosidase
N-glycans
Golgi apparatus
Whole exome sequencing
MAN2A2 gene
Online Access:https://doi.org/10.1038/s41598-025-09400-5
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https://doi.org/10.1038/s41598-025-09400-5

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