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Article

Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG.

Biomolecules - 29 Aug 2025

Itoh Kazuyoshi, Kurogochi Masaki, Kaname Tadashi, Furukawa Jun-Ichi, Nishihara Shoko

Abstract excerpt

SLC35A2-CDG is a congenital disorder of glycosylation caused by mutations in the SLC35A2 gene encoding a Golgi-localized UDP-galactose transporter. This transporter plays an essential role in glycan synthesis by transporting UDP-galactose from the cytoplasm into the Golgi lumen. Its dysfunction leads to impaired galactose-containing glycans and various neurological symptoms, although the underlying mechanisms...

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Identifiers

PMID: 41008563
DOI: 10.3390/biom15091256
PMCID: PMC12467441

Genes

SLC35A2

Variants

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