Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

doi:10.1016/j.ajhg.2021.12.010

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Article

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

American journal of human genetics - 3 Feb 2022

Maia Nuno, Potelle Sven, Yildirim Hamide, Duvet Sandrine, Akula Shyam K, Schulz Celine, Wiame Elsa, Gheldof Alexander, O'Kane Katherine, Lai Abbe, Sermon Karen, Proisy Maïa, Loget Philippe, Attié-Bitach Tania, Quelin Chloé, Fortuna Ana Maria, Soares Ana Rita, de Brouwer Arjan P M, Van Schaftingen Emile, Nassogne Marie-Cécile, Walsh Christopher A, Stouffs Katrien, Jorge Paula, Jansen Anna C, Foulquier François

Abstract excerpt

Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by loss of function of an enzyme involved in fOS metabolism, has elicited increased interest in fOS processing. The catabolism of fOSs has been linked to...

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PMID: 35045343
DOI: 10.1016/j.ajhg.2021.12.010
PMCID: PMC8874227

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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