Article

A conserved role for ALG10/ALG10B and the <i>N</i> -glycosylation pathway in the sleep-epilepsy axis

2024-12-13

Abstract excerpt

<h4>ABSTRACT</h4> Congenital disorders of glycosylation (CDG) comprise a class of inborn errors of metabolism resulting from pathogenic variants in genes coding for enzymes involved in the asparagine-linked glycosylation of proteins. Unexpectedly to date, no CDG has been described for ALG10 , encoding the alpha-1,2-glucosyltransferase catalyzing the final step of lipid-linked oligosaccharide biosynthesis. Genome...

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Literature Corpus work: ee702e99-dee0-5190-be5b-4a0305d31576
DOI: 10.1101/2024.12.11.24318624

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