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Notch (show NOTCH1 ELISA Kits)-modifying xylosyltransferase structures support an SNi-like retaining mechanism.
We show that the pug (show MTHFD1 ELISA Kits) mutation disrupts Xylt1 activity and subcellular localization, leading to a reduction in GAG chains in pug (show MTHFD1 ELISA Kits) mutants. The pug (show MTHFD1 ELISA Kits) mutant serves as a novel model for mammalian dwarfism.
Our study describes the first case of DBQD2 resulting from compound heterozygous XYLT1 mutation, expands the mutational spectrum of the disease and provides evidence that the severe growth retardation and microsomia observed in DBQD2 patients may result not only from the skeletal dysplasia itself but also from GH and IGF-1 (show IGF1 ELISA Kits) deficiency.
XYLT1 mutation is associated with short limb skeletal dysplasia.
Human XYLT1 promoter sequence analysis and description.
These results suggest that XT-1 expression is refractory to the disease process and to inhibition by inflammatory cytokines and that signaling through AP-1, Sp1, and Sp3 is important in the maintenance of XT-1 levels in NP cells.
five distinct homozygous XYLT1 mutations may have a role in Desbuquois dysplasia type 2
A family study shows that functional alterations of XYLT1 cause an autosomal recessive short stature syndrome associated with intellectual disability.
XYLT1 activity increased time-dependently in response to progressive myofibroblast transformation.
AP-1 (show FOSB ELISA Kits) and Sp3 (show SP3 ELISA Kits) are key regulators of IL-1beta (show IL1B ELISA Kits)-mediated modulation of xylosyltransferase I expression.
Xylosyltransferase-I regulates glycosaminoglycan synthesis during the pathogenic process of human osteoarthritis
DXD motifs in human xylosyltransferase I are required for enzyme activity
This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.
UDP-D-xylose:core protein beta-D-xylosyltransferase
, xylosyltransferase I
, peptide O-xylosyltransferase 1
, O-xylosyltransferase 1
, beta-D-xylosyltransferase 1
, xylosyltransferase 1
, xylosyltransferase iota
, protein xylosyltransferase