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Article

A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.

Development (Cambridge, England) - 1 Jun 2021

Gücüm Sevinç, Sakson Roman, Hoffmann Marcus, Grote Valerian, Becker Clara, Pakari Kaisa, Beedgen Lars, Thiel Christian, Rapp Erdmann, Ruppert Thomas, Thumberger Thomas, Wittbrodt Joachim

Abstract excerpt

Defects in the evolutionarily conserved protein-glycosylation machinery during embryonic development are often fatal. Consequently, congenital disorders of glycosylation (CDG) in human are rare. We modelled a putative hypomorphic mutation described in an alpha-1,3/1,6-mannosyltransferase (ALG2) index patient (ALG2-CDG) to address the developmental consequences in the teleost medaka (Oryzias latipes). We observed...

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Identifiers

PMID: 34106226
DOI: 10.1242/dev.199385
PMCID: PMC8217707

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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