{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T10:32:41Z","timestamp":1776162761396,"version":"3.50.1"},"reference-count":87,"publisher":"The Company of Biologists","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"am","delay-in-days":2694,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Classic galactosemia (CG) is an autosomal recessive disorder resulting from loss of galactose-1-phosphate uridyltransferase (GALT) that 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 synthesis. These four UDP-sugars are essential donors driving synthesis of glycoproteins and glycolipids that heavily decorate cell surfaces and extracellular spaces. In addition to acute, potentially lethal neonatal symptoms, maturing CG patients develop striking neurodevelopmental, motor and cognitive impairments. Previous studies suggest association of neurological symptoms with glycosylation defects, with CG recently described as a Congenital Disorder of Glycosylation (CDG) showing defects in both N- and O-linked glycans. Here, we characterize behavioral traits, synaptic development and glycosylated synaptomatrix formation in a GALT-deficient Drosophila disease model. Loss of Drosophila GALT (dGALT) greatly impairs coordinated movement and results in structural overelaboration and architectural abnormalities at the neuromuscular junction (NMJ). Dietary galactose and mutation of galactokinase (dGALK) or UDP-glucose dehydrogenase (sugarless) genes are identified as critical environmental and genetic modifiers, respectively, of behavioral and cellular defects. Assaying the NMJ extracellular synaptomatrix with a broad panel of lectin probes reveals profound alterations in dGALT mutants, including depletion of galactosyl\/N-acetylgalactosamine and fucosylated horseradish peroxidase (HRP) moieties, which are differentially corrected by dGALK co-removal and sugarless overexpression. Synaptogenesis relies on trans-synaptic signals modulated by this synaptomatrix carbohydrate environment, and dGALT null NMJs display striking changes in heparan sulfate proteoglycan (HSPG) co-receptor and Wnt ligand levels, which are also corrected by dGALK co-removal and sugarless overexpression. These results reveal synaptomatrix glycosylation losses, altered trans-synaptic signaling pathway components, defective synaptogenesis and impaired coordinated movement in a CG neurological disease model.<\/jats:p>","DOI":"10.1242\/dmm.017137","type":"journal-article","created":{"date-parts":[[2014,10,18]],"date-time":"2014-10-18T07:17:39Z","timestamp":1413616659000},"source":"Crossref","is-referenced-by-count":29,"title":["Altered synaptic architecture and glycosylated synaptomatrix composition in a<i>Drosophila<\/i>classic galactosemia disease model"],"prefix":"10.1242","author":[{"given":"Patricia","family":"Jumbo-Lucioni","sequence":"first","affiliation":[{"name":"Vanderbilt University, Nashville, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Parkinson","sequence":"additional","affiliation":[{"name":"Vanderbilt University, Nashville, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kendal","family":"Broadie","sequence":"additional","affiliation":[{"name":"Vanderbilt University, Nashville, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2014,1,1]]},"reference":[{"key":"2021042501173935600_b1-0071365","first-page":"481","article-title":"In vivo imaging of the Drosophila larval neuromuscular junction","author":"Andlauer","year":"2012","journal-title":"Cold Spring Harb. 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