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Article

A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.

European journal of human genetics : EJHG - 1 Dec 2018

van Diepen Laura, Buettner Falk F R, Hoffmann Dirk, Thiesler Christina T, von Bohlen Und Halbach Oliver, von Bohlen Und Halbach Viola, Jensen Lars R, Steinemann Doris, Edvardson Simon, Elpeleg Orly, Schambach Axel, Gerardy-Schahn Rita, Kuss Andreas W

Abstract excerpt

ST3GAL3 encodes the Golgi enzyme beta-galactoside-alpha-2,3-sialyltransferase-III that in humans forms, among others, the sialyl Lewis a (sLea) epitope on proteins. Functionally deleterious variants in this gene were previously identified in patients with either non-syndromic or syndromic intellectual disability such as West syndrome, an age-dependent epileptic encephalopathic syndrome associated with...

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PMID: 30089820
DOI: 10.1038/s41431-018-0220-5
PMCID: PMC6244410

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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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