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Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

Human molecular genetics - 15 Apr 2015

Riemersma Moniek, Sandrock Julia, Boltje Thomas J, Büll Christian, Heise Torben, Ashikov Angel, Adema Gosse J, van Bokhoven Hans, Lefeber Dirk J

Abstract excerpt

Binding of cellular α-dystroglycan (α-DG) to its extracellular matrix ligands is fully dependent on a unique O-mannose-linked glycan. Disrupted O-mannosylation is the hallmark of the muscular dystrophy-dystroglycanopathy (MDDG) syndromes. SLC35A1, encoding the transporter of cytidine 5'-monophosphate-sialic acid, was recently identified as MDDG candidate gene. This is surprising, since sialic acid itself is...

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Identifiers

PMID: 25552652
DOI: 10.1093/hmg/ddu742

Genes

HAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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