EC Number   |
General Information |
Reference |
|---|
    2.4.1.174 | evolution |
the CSGALNACT1 and CSGALNACT2 isozymes enzymes both have a GT7 catalytic domain with beta(1->4)-N-acetylgalactosaminyl transferase |
735999 |
| 2.4.1.174 | malfunction |
abnormalities in perineuronal nets and behavior are observed in mice lacking CSGalNAcT1. Loss of this enzyme reduces the amount of chondroitin sulfate (CS) by approximately 50% in various brain regions. The amount of CS in perineuronal nets (PNNs) is also diminished in T1KO compared to wild-type mice, although the amount of a major CS proteoglycan core protein, aggrecan, is not changed. In T1KO, abnormalities in several behavioral tests, including the open-field test, acoustic startle response, and social preference are observed. Phenotype, overview |
759758 |
| 2.4.1.174 | malfunction |
after silencing of endogenous CSGalNAcT-1 with specific siRNA, the intracellular hepatitis C virus (HCV) RNA load is largely reduced, and the HCV core protein is declined as well |
759592 |
| 2.4.1.174 | malfunction |
chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) deficiency results in a mild skeletal dysplasia and joint laxity |
759329 |
| 2.4.1.174 | malfunction |
chondroitin sulfate production is reduced by approximately half in CSGalNAcT1-null mice, and the amount of short-chain CS is also reduced compared to wild-type mice. CSGalNAcT1-null mice have reduced skeletal growth, thickness of the growth plate is reduced, and the cartilage of the null mice is significantly smaller than that of wild-type mice, phenotype, overview |
-, 721527 |
| 2.4.1.174 | malfunction |
Chsy1-/- mice show a profound limb patterning defect in which orthogonally shifted ectopic joints form in the distal digits. Associated with the digit-patterning defect is a shift in cell orientation and an imbalance in chondroitin sulfation. Chondrogenesis is impaired as early as E13.5 in Chsy1-/- embryos. Ectopic, split digit phenotype, overview |
722095 |
| 2.4.1.174 | malfunction |
CSS2 knockout chondrocyte culture systems, together with siRNA of CSS1, reveal the presence of two CS chain species in length, suggesting two steps of CS chain polymerization; i.e., elongation from the linkage region up to Mr of about 10000 and further extension |
723586 |
| 2.4.1.174 | malfunction |
deficiency in chondroitin N-acetylgalactosaminyltransferase-1 reduces the number of chondroitin sulfate chains, leading to skeletal dysplasias in mice. Accumulation of phosphorylated pentasaccharide and tetrasaccharide linkages in ChGn-1-/- growth plate cartilage |
-, 736493 |
| 2.4.1.174 | malfunction |
deficiency in chondroitin N-acetylgalactosaminyltransferase-1 reduces the numbers of chondroitin sulfate chains, leading to skeletal dysplasias in mice. Knockdown of ChGn-1 decreases chondroitin sulfate levels in L cells, chondroitin sulfate chain lengths in L-shRNAChGn-1-1, L-shRNA ChGn-1-2, and mock-transfected murine L cells, overview |
721534 |
| 2.4.1.174 | malfunction |
impaired chndroitin sulfate (CS) content in cartilage and induction of abnormal endochondral ossification is caused by t1::t2 (CSGALNACT1/CSGALNACT2) double deficiency. DKO mice exhibit postnatal lethality, whereas t2 KO mice show normal size and skeletal development. Col2-DKO mice survive to adulthood and show severe dwarfism. Histological analysis of epiphyseal cartilage from Col2-DKO mice reveals disrupted endochondral ossification, characterized by drastic GAG reduction in the extracellular matrix. DKO cartilage has reduced chondrocyte proliferation and an increased number of apoptotic chondrocytes compared with wild-type cartilage. Conversely, primary chondrocyte cultures from Col2-DKO knee cartilage have the same proliferation rate as wild-type chondrocytes and low GAG expression levels, indicating that the chondrocytes themselves have an intact proliferative ability. Quantitative RT-PCR analysis of E18.5 cartilage shows that the expression levels of Col2a1 and Ptch1 transcripts tend to decrease in DKO compared with those in wild-type mice. Phenotype of t2 null mice, overview |
-, 760033 |
