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Disease on EC 2.4.1.50 - procollagen galactosyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Carcinoma
Galactosyltransferase II: role in the diagnosis of pancreatic carcinoma.
Carcinoma, Hepatocellular
The human collagen beta(1-O)galactosyltransferase, GLT25D1, is a soluble endoplasmic reticulum localized protein.
Cataract
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Cerebral Small Vessel Diseases
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Congenital Abnormalities
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders.
Connective Tissue Diseases
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders.
Contracture
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder.
Ehlers-Danlos Syndrome
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some ?3GalT6-pathy mutations.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders.
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
Fatty Liver
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice.
Fetal Death
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice.
Glaucoma
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Hepatitis
Glt25d2 Knockout Directly Increases CD25+CD69- but Decreases CD25-CD69+ Subset Proliferation and is Involved in Concanavalin-Induced Hepatitis.
Infections
Serum and liver enzymes of collagen synthesis in hepatic murine schistosomiasis mansoni.
Intellectual Disability
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder.
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
Joint Dislocations
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders.
Joint Instability
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some ?3GalT6-pathy mutations.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Kashin-Beck Disease
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
Leukemia
Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells.
Leukemia, T-Cell
Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells.
Lipodystrophy
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice.
Muscle Hypotonia
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder.
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Muscular Diseases
Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects.
Muscular Dystrophies
Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects.
Neoplasm Metastasis
Exosomes Secreted by Adipose-Derived Mesenchymal Stem Cells Foster Metastasis and Osteosarcoma Proliferation by Increasing COLGALT2 Expression.
Neoplasms
Asbestos-associated genome-wide DNA methylation changes in lung cancer.
Exosomes Secreted by Adipose-Derived Mesenchymal Stem Cells Foster Metastasis and Osteosarcoma Proliferation by Increasing COLGALT2 Expression.
Nine glycolysis-related gene signature predicting the survival of patients with endometrial adenocarcinoma.
Tissue polypeptide antigen, galactosyltransferase isoenzyme II and pancreatic oncofetal antigen serum determination: role in pancreatic cancer diagnosis.
Non-alcoholic Fatty Liver Disease
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice.
Obesity
Collagen beta (1-O) galactosyltransferase 1 (GLT25D1) is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.
Osteoarthritis
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis.
Osteosarcoma
Collagen Accumulation in Osteosarcoma Cells lacking GLT25D1 Collagen Galactosyltransferase.
Exosomes Secreted by Adipose-Derived Mesenchymal Stem Cells Foster Metastasis and Osteosarcoma Proliferation by Increasing COLGALT2 Expression.
Ovarian Neoplasms
COLGALT2 is overexpressed in ovarian cancer and interacts with PLOD3.
Pancreatic Neoplasms
Galactosyltransferase II in detection of pancreatic cancer.
Tissue polypeptide antigen, galactosyltransferase isoenzyme II and pancreatic oncofetal antigen serum determination: role in pancreatic cancer diagnosis.
Pancreatitis, Chronic
Tissue polypeptide antigen, galactosyltransferase isoenzyme II and pancreatic oncofetal antigen serum determination: role in pancreatic cancer diagnosis.
Porencephaly
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report.
Collagen glycosylation.
procollagen galactosyltransferase deficiency
Collagen ?(1-O) galactosyltransferase 2 deficiency contributes to lipodystrophy and aggravates NAFLD related to HMW adiponectin in mice.
Pulmonary Fibrosis
Enzymes of collagen synthesis in lung tissues of bleomycin-induced pulmonary fibrosis.
Refractive Errors
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Retinal Detachment
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Retinoblastoma
Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells.
Sarcoma
Identification of novel lipid droplet factors that regulate lipophagy and cholesterol efflux in macrophage foam cells.
Strabismus
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.