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September 10, 2025BiomoleculesOpen Access

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

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Authors

KIKazuyoshi ItohMKMasaki KurogochiTKTadashi Kaname

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Overview

Established Drosophila model reveals that Ugalt impacts NMJ architecture via mucin-type O-glycosylation, suggesting a connection to neurological defects.

Key Points

  • Knockdown of Ugalt caused mislocalized neuromuscular junctions and reduced mucin-type O-glycans, indicating its vital role.
  • Embryonic lethality observed in Ugalt knockout flies highlights the gene's critical function in development and glycosylation processes.
  • Genetic interactions demonstrated between Ugalt and dC1GalT1, implicating them in the regulation of NMJ architecture.
  • Findings point to the significance of O-glycosylation in neurological symptoms associated with SLC35A2-CDG.

Cite This Study

Itoh et al. (2025) studied this question.

synapsesocial.com/papers/68c243acb210217d647a7bbchttps://doi.org/10.3390/biom15091256
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights2025
  2. 2Muscle Energy Crisis is the Initial Driver of Locomotor Dysfunction in β-glucuronidase-Deficient Drosophila2025
  3. 3Recent insights into the implications of UGDH mutations for human developmental disease2025
  4. 4ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG2025
  5. 5From hepatosplenomegaly to genetic diagnosis: A case of congenital disorder of glycosylation type IIb due to mannosyl-oligosaccharide glucosidase mutation2025