Article

Neuronal loss of <i>Galnt2</i> Impairs O-glycosylation and Leads to Neurobehavioral Deficits Mimicking GALNT2-CDG

2024-10-02

Abstract excerpt

GALNT2-CDG is a multi-system genetic disorder due to biallelic pathogenic mutations in GALNT2 , which encodes a ubiquitously expressed Golgi-localized glycosyltransferase that initiates mucin-type O-glycosylation. Affected individuals exhibit dysmorphic facial features, short stature, decreased HDL-C, and notable impairments in brain function. GALNT2-CDG patients show global developmental delay without speech dev...

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Literature Corpus work: 29a8fe9b-ea26-5a27-91a3-ff28f4c5d015
DOI: 10.1101/2024.09.30.615951

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