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Disease on EC 2.4.1.133 - xylosylprotein 4-beta-galactosyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells.
Arthritis, Rheumatoid
beta1,4-Galactosyltransferase-I contributes to the inflammatory processes in synovial tissue of patients with rheumatoid arthritis.
Astrocytoma
Over-expression of beta-1,4-galactosyltransferase I, II, and V in human astrocytoma.
Over-expression of beta-1,4-galactosyltransferase V increases the growth of astrocytoma cell line.
Breast Neoplasms
Arachidonic acid induces an increase of ?-1,4-galactosyltransferase I expression in MDA-MB-231 breast cancer cells.
Carcinoma, Hepatocellular
Identification of beta-1,4-galactosyltransferase I as a target gene of HBx-induced cell cycle progression of hepatoma cell.
Cataract
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Chlamydia Infections
Attachment of Chlamydia trachomatis L2 to host cells requires sulfation.
Chondrosarcoma
Kinetics of intracellular processing of chondroitin sulfate proteoglycan core protein and other matrix components.
Coloboma
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
Dwarfism
Current insights into the molecular genetic basis of dwarfism in livestock.
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
Ehlers-Danlos Syndrome
Biochemical and thermodynamic characterization of mutated beta1,4-galactosyltransferases 7 involved in the progeroid form of the Ehlers-Danlos syndrome.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (ss4GalT-7) deficient form of Ehlers-Danlos syndrome.
Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.
Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Further defining the phenotypic spectrum of B4GALT7 mutations.
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Glaucoma
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Glioblastoma
Over-expression of beta-1,4-galactosyltransferase I, II, and V in human astrocytoma.
Herpes Zoster
Characterization of a novel ZP3-independent sperm-binding ligand that facilitates sperm adhesion to the egg coat.
Molecular basis of mammalian gamete binding.
Hydrocephalus
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
Joint Instability
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Lung Neoplasms
Elevated beta1,4-galactosyltransferase I in highly metastatic human lung cancer cells. Identification of E1AF as important transcription activator.
Melanoma
The level of cell surface beta1,4-galactosyltransferase I influences the invasive potential of murine melanoma cells.
Muscle Hypotonia
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Muscular Diseases
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
Neoplasms
Correlated gene expression between beta-1,4-galactosyltransferase V and N-acetylglucosaminyltransferase V in human cancer cell lines.
Galactosyltransferase associated with tumor in patients with ovarian cancer: factors involved in elevation of serum galactosyltransferase.
Identification of beta-1,4-galactosyltransferase I as a target gene of HBx-induced cell cycle progression of hepatoma cell.
Sequential action of Ets-1 and Sp1 in the activation of the human beta-1,4-galactosyltransferase V gene involved in abnormal glycosylation characteristic of cancer cells.
The role of TNF-alpha and its receptors in the production of beta-1,4 galactosyltransferase I and V mRNAs by rat primary astrocytes.
The role of TNF-alpha and its receptors in the production of beta-1,4-galactosyltransferase I mRNA by rat primary type-2 astrocytes.
Transcriptional regulation of the human beta-1,4-galactosyltransferase V gene in cancer cells: essential role of transcription factor Sp1.
Neuroblastoma
Transcriptional regulation of the human beta-1,4-galactosyltransferase V gene in cancer cells: essential role of transcription factor Sp1.
Ovarian Neoplasms
Galactosyltransferase associated with tumor in patients with ovarian cancer: factors involved in elevation of serum galactosyltransferase.
Pectus Carinatum
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.
Refractive Errors
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.
Retinal Detachment
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Skin Abnormalities
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.
Spinal Cord Injuries
Altered beta-1,4-galactosyltransferase I expression during early inflammation after spinal cord contusion injury.
Strabismus
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Tauopathies
Altered protein glycosylation predicts Alzheimer's disease and modulates its pathology in disease model Drosophila.
xylosylprotein 4-beta-galactosyltransferase deficiency
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome.
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of ?4GalT7-deficient Ehlers-Danlos syndrome.
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.