Jumbo-Lucioni P, Parkinson W, Broadie K. Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model. Dis Model Mech. 2014 Dec;7(12):1365-78. doi: 10.1242/dmm.017137. PMID: 25326312; PMCID: PMC4257005.
From the abstract: "Classic galactosemia (CG) is an autosomal recessive disorder resulting
from loss of galactose-1-phosphate uridyltransferase (GALT), which
catalyzes conversion of galactose-1-phosphate and uridine diphosphate
(UDP)-glucose to glucose-1-phosphate and UDP-galactose, immediately
upstream of UDP-N-acetylgalactosamine and UDP-N-acetylglucosamine
Here, we characterize behavioral traits, synaptic development and
glycosylated synaptomatrix formation in a GALT-deficient Drosophila
disease model. ... These results reveal synaptomatrix
glycosylation losses, altered trans-synaptic signaling pathway
components, defective synaptogenesis and impaired coordinated movement
in a CG neurological disease model."