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SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics

25 May 2025

Abstract excerpt

SLC35A2 encodes a uridine diphosphate (UDP)-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic SLC35A2 variants have been identified in congenital disorders of glycosylation and somatic SLC35A2 variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional...

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PMID: 40418734
DOI: 10.1093/brain/awaf198

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