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• W2485382110 endingPage "3714" @default.
• W2485382110 startingPage "3699" @default.
• W2485382110 abstract "The multiple galactosemia disease states manifest long-term neurological symptoms. Galactosemia I results from loss of galactose-1-phosphate uridyltransferase (GALT), which converts galactose-1-phosphate + UDP-glucose to glucose-1-phosphate + UDP-galactose. Galactosemia II results from loss of galactokinase (GALK), phosphorylating galactose to galactose-1-phosphate. Galactosemia III results from the loss of UDP-galactose 4'-epimerase (GALE), which interconverts UDP-galactose and UDP-glucose, as well as UDP-N-acetylgalactosamine and UDP-N-acetylglucosamine. UDP-glucose pyrophosphorylase (UGP) alternatively makes UDP-galactose from uridine triphosphate and galactose-1-phosphate. All four UDP-sugars are essential donors for glycoprotein biosynthesis with critical roles at the developing neuromuscular synapse. Drosophila galactosemia I (dGALT) and II (dGALK) disease models genetically interact; manifesting deficits in coordinated movement, neuromuscular junction (NMJ) development, synaptic glycosylation, and Wnt trans-synaptic signalling. Similarly, dGALE and dUGP mutants display striking locomotor and NMJ formation defects, including expanded synaptic arbours, glycosylation losses, and differential changes in Wnt trans-synaptic signalling. In combination with dGALT loss, both dGALE and dUGP mutants compromise the synaptomatrix glycan environment that regulates Wnt trans-synaptic signalling that drives 1) presynaptic Futsch/MAP1b microtubule dynamics and 2) postsynaptic Frizzled nuclear import (FNI). Taken together, these findings indicate UDP-sugar balance is a key modifier of neurological outcomes in all three interacting galactosemia disease models, suggest that Futsch homolog MAP1B and the Wnt Frizzled receptor may be disease-relevant targets in epimerase and transferase galactosemias, and identify UGP as promising new potential therapeutic target for galactosemia neuropathology." @default.
• W2485382110 created "2016-08-23" @default.
• W2485382110 creator A5009315988 @default.
• W2485382110 creator A5028397104 @default.
• W2485382110 creator A5051428711 @default.
• W2485382110 creator A5065307665 @default.
• W2485382110 date "2016-07-27" @default.
• W2485382110 modified "2023-09-26" @default.
• W2485382110 title "Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in<i>Drosophila</i>galactosemia models" @default.
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• W2485382110 doi "https://doi.org/10.1093/hmg/ddw217" @default.
• W2485382110 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5216615" @default.
• W2485382110 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27466186" @default.
• W2485382110 hasPublicationYear "2016" @default.
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