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Disease on EC 2.7.8.15 - UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
adenylate kinase deficiency
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
Brain Diseases
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Carcinoma
Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.
Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancer.
Carcinoma, Hepatocellular
Elevated carbohydrate phosphotransferase activity in human hepatoma and phosphorylation of cathepsin D.
Carcinoma, Squamous Cell
Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.
N-glycosylation gene DPAGT1 is a target of the Wnt/beta-catenin signaling pathway.
Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancer.
Congenital Disorders of Glycosylation
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.
Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
Congenital Myasthenic Syndrome caused by mutations in DPAGT.
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
Contracture
Congenital Myasthenic Syndrome caused by mutations in DPAGT.
Epilepsy
Congenital Disorders of Glycosylation from a Neurological Perspective.
Genetic Diseases, Inborn
Correction of mucolipidosis III in vitro by gene transfer.
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
[Mucolipidoses type II. Case report]
Infertility
DPAGT1-Mediated Protein N-Glycosylation Is Indispensable for Oocyte and Follicle Development in Mice.
Leishmaniasis
Identification and phylogenetic relationship of Iranian strains of various Leishmania species isolated from cutaneous and visceral cases of leishmaniasis based on N-acetylglucosamine-1-phosphate transferase gene.
Inter- and Intraspecific Variations of Leishmania Strains Isolated from Patients with Cutaneous and Visceral Leishmaniases in Fars Province, South of Iran.
Leishmaniasis, Cutaneous
Identification of Leishmania species using N-acetylglucosamine-1-phosphate transferase gene in a zoonotic cutaneous leishmaniasis focus of Iran.
Leukemia
Increased N-acetylglucosamine-1-phosphotransferase activity in sera from patients with leukemia.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Increased N-acetylglucosamine-1-phosphotransferase activity in sera from patients with leukemia.
Leukemia, Myeloid, Acute
Increased N-acetylglucosamine-1-phosphotransferase activity in sera from patients with leukemia.
Lysosomal Storage Diseases
Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease).
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease.
Lysosomal enzyme phosphorylation in human fibroblasts. Kinetic parameters offer a biochemical rationale for two distinct defects in the uridine diphospho-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase.
Metabolic Diseases
Lysosomal storage causes cellular dysfunction In mucolipidosis II skin fibroblasts.
Mouth Neoplasms
Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.
NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment.
Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancer.
Protein N-glycosylation in oral cancer: dysregulated cellular networks among DPAGT1, E-cadherin adhesion and canonical Wnt signaling.
Mucolipidoses
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).
A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.
A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Acid sphingomyelinase: relation of 93lysine residue on the ratio of intracellular to secreted enzyme activity.
Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.
Characterization of mesenchymal stem cells in mucolipidosis type II (I-cell disease).
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
Correction of mucolipidosis III in vitro by gene transfer.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.
Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease.
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.
Light and heavy lysosomes: characterization of N-acetyl-beta-D-hexosaminidase isolated from normal and I-cell disease lymphoblasts.
Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Lysosomal enzyme phosphorylation in human fibroblasts. Kinetic parameters offer a biochemical rationale for two distinct defects in the uridine diphospho-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase.
Lysosomal storage causes cellular dysfunction In mucolipidosis II skin fibroblasts.
Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts.
Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.
Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene.
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population.
Mucolipidosis type II in a domestic shorthair cat.
Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
Peripheral blood lymphocyte appearance in a case of I cell disease.
Phosphorylation of lysosomal enzymes in fibroblasts. Marked deficiency of N-acetylglucosamine-1-phosphotransferase in fibroblasts of patients with mucolipidosis III.
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy.
Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
Muscular Diseases
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family.
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.
Trouble at the junction: When myopathy and myasthenia overlap.
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
Myasthenic Syndromes, Congenital
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family.
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Trouble at the junction: When myopathy and myasthenia overlap.
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
Myelodysplastic Syndromes
Increased N-acetylglucosamine-1-phosphotransferase activity in sera from patients with leukemia.
Neoplasm Metastasis
N-glycosylation induces the CTHRC1 protein and drives oral cancer cell migration.
Neoplasms
A five-mRNA signature associated with post-translational modifications can better predict recurrence and survival in cervical cancer.
A practical synthesis of a novel DPAGT1 inhibitor, aminouridyl phenoxypiperidinbenzyl butanamide (APPB) for in vivo studies.
Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.
DPAGT1 Inhibitors of Capuramycin Analogues and Their Antimigratory Activities of Solid Tumors.
Dysregulation of the miR-325-3p/DPAGT1 axis supports HBV-positive HCC chemoresistance.
N-glycosylation induces the CTHRC1 protein and drives oral cancer cell migration.
NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment.
Orthotopic non-metastatic and metastatic oral cancer mouse models.
Protein N-glycosylation in oral cancer: dysregulated cellular networks among DPAGT1, E-cadherin adhesion and canonical Wnt signaling.
UDP-N-acetylglucosamine: lysosomal enzyme precursor N-acetylglucosamine-1-phosphate transferase activities in human ovarian tumor tissue and some transformed cell lines.
Neuroblastoma
Identification and characterization of human LL5A gene and mouse Ll5a gene in silico.
Pancreatic Neoplasms
DPAGT1 Inhibitors of Capuramycin Analogues and Their Antimigratory Activities of Solid Tumors.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Increased N-acetylglucosamine-1-phosphotransferase activity in sera from patients with leukemia.
Squamous Cell Carcinoma of Head and Neck
Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.
Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancer.
Stuttering
A role for inherited metabolic deficits in persistent developmental stuttering.
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
Tuberculosis
N-Acetylglucosamine-1-phosphate transferase, WecA, as a validated drug target in Mycobacterium tuberculosis.
udp-n-acetylglucosamine-dolichyl-phosphate n-acetylglucosaminephosphotransferase deficiency
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Uterine Cervical Neoplasms
Identification of a Six-Gene Signature for Predicting the Overall Survival of Cervical Cancer Patients.