Gene Symbol: extl3
Description: exostosin-like glycosyltransferase 3
Alias: im:7141548, exostosin-like 3, box, boxer, exostoses (multiple)-like 3
van Eeden F, Granato M, Schach U, Brand M, Furutani Seiki M, Haffter P, et al
. Genetic analysis of fin formation in the zebrafish, Danio rerio. Development. 1996;123:255-62 pubmed
..Stein und bein (sub) has reduced dorsal and pelvic fins, whereas finless (fls) and wanda (wan) mutants affect all adult fins. Finally, mutations in four genes causing defects in embryonic skin formation will be briefly reported. ..
Baier H, Klostermann S, Trowe T, Karlstrom R, Nusslein Volhard C, Bonhoeffer F. Genetic dissection of the retinotectal projection. Development. 1996;123:415-25 pubmed
..The results of this screen show that a large-scale genetic approach can be applied to relatively late and circumscribed developmental processes in the vertebrate brain. ..
Norton W, Ledin J, Grandel H, Neumann C. HSPG synthesis by zebrafish Ext2 and Extl3 is required for Fgf10 signalling during limb development. Development. 2005;132:4963-73 pubmed
..We find that fgf10 mutants strongly resemble zebrafish ext2 and extl3 mutants, which encode glycosyltransferases required for heparan sulphate biosynthesis...
Kastenhuber E, Kern U, Bonkowsky J, Chien C, Driever W, Schweitzer J. Netrin-DCC, Robo-Slit, and heparan sulfate proteoglycans coordinate lateral positioning of longitudinal dopaminergic diencephalospinal axons. J Neurosci. 2009;29:8914-26 pubmed publisher
..Simultaneous integrations of repulsive and attractive long-range cues from the midline act in a concerted manner to define lateral positions of DA longitudinal axon tracts. ..
Holmborn K, Habicher J, Kasza Z, Eriksson A, Filipek Gorniok B, Gopal S, et al
. On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis. J Biol Chem. 2012;287:33905-16 pubmed
..of defective formation of the common proteoglycan linkage tetrasaccharide were analyzed along with ext2 and extl3 mutants, predicted to have defective HS polymerization...
Volpi S, Yamazaki Y, Brauer P, van Rooijen E, Hayashida A, Slavotinek A, et al
. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017;214:623-637 pubmed publisher
..Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis...
Culverwell J, Karlstrom R. Making the connection: retinal axon guidance in the zebrafish. Semin Cell Dev Biol. 2002;13:497-506 pubmed
..The combination of zebrafish genetic and embryological approaches promises to greatly increase our understanding of how multiple guidance mechanisms establish the complex neural interconnectivity of the vertebrate brain. ..
Lee J, von der Hardt S, Rusch M, Stringer S, Stickney H, Talbot W, et al
. Axon sorting in the optic tract requires HSPG synthesis by ext2 (dackel) and extl3 (boxer). Neuron. 2004;44:947-60 pubmed
..Molecular cloning reveals that dak and box encode ext2 and extl3, glycosyltransferases implicated in heparan sulfate (HS) biosynthesis...
Venero Galanternik M, Kramer K, Piotrowski T. Heparan Sulfate Proteoglycans Regulate Fgf Signaling and Cell Polarity during Collective Cell Migration. Cell Rep. 2015;: pubmed publisher
..Analysis of mutations in two exostosin glycosyltransferase genes (extl3 and ext2) revealed that loss of heparan sulfate (HS) chains results in a failure of collective cell migration due ..