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To establish the developmental relevance of this reagent we characterized the maternal-effect phenotypes of novel brother of tout-velu alleles generated on an FRT42D chromosome in a somatic mosaic screen. We find that an apparent null mutation that causes severe defects in somatic tissues has a much milder effect on embryonic patterning, emphasizing the necessity of analyzing mutant phenotypes at multiple developmental st
Demonstration of a novel gene DEXT3 of Drosophila melanogaster as the essential N-acetylglucosamine transferase in the heparan sulfate biosynthesis: chain initiation and elongation.
Results suggest that all three Drosophila EXT proteins -- tout-velu, brother of tout-velu, and sister of tout-velu -- are required for the biosynthesis of heparan sulfate proteoglycans, and for the gradient formation of morphogens.
Regenerating islet-derived 1alpha (Reg (show KCNH2 Proteins)-1alpha) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.
EXTL3 expression is developmentally regulated, and contributes to the regulated production of heparan sulfate in different adult and embryonic tissues of mice.
EXTL3 expression at different grades in the central and peripheral nervous system components including the neural retina and neural crest-derived structures at embryonic days (E) 11.5, E12.5, E14.5, and E16.5.
EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development.
We show that biallelic mutations in EXTL3 disturb glycosaminoglycan synthesis and thus lead to a recognizable syndrome characterized by variable expression of skeletal, neurological, and immunological abnormalities.
Recombinant EXTL2 (show EXTL2 Proteins) showed weak ability to transfer N-acetylgalactosamine to heparan sulfate precursor molecules but also, that EXTL2 (show EXTL2 Proteins) exhibited much stronger in vitro N-acetylglucosamine-transferase activity related to elongation of heparan sulfate chains.
Regenerating islet-derived 1alpha (Reg-1alpha) protein is new neuronal secreted factor that stimulates neurite outgrowth via exostosin Tumor-like 3 (EXTL3) receptor.
Lysosomal glycosaminoglycan levels in mucopolysaccharidosis are reduced by EXTL3 gene silencing.
We conclude that EXTL3 promoter methylation and its related loss of EXTL3 expression are involved in the loss of HS expression in mucinous CRCs.
HIP enhanced EXTL3 translocation from the membrane to the nucleus, in support of a model whereby EXTL3 mediates HIP signaling for islet neogenesis.
A missense mutation involving the exon 3 of the EXTL3 gene in the case of obstructing colon cancer is described in a 31-year-old patient affected by hereditary multiple exostoses.
These results suggest that EXTL3/EXTR1 is a cell surface Reg receptor that binds to Reg protein.
This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants.
, brother of tout velu
, drosophila Ext-like 3
, exostoses-like 3
, exostosin-like 3
, glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
, multiple exostosis-like protein 3
, EXT-related 1
, exostoses (multiple)-like 3
, exostosin tumor-like 3
, hereditary multiple exostoses gene isolog
, putative tumor suppressor protein EXTL3
, reg receptor
, Reg receptor