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Disease on EC 2.4.1.312 - protein O-mannose beta-1,4-N-acetylglucosaminyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Brain Diseases
Muscular dystrophies due to defective glycosylation of dystroglycan.
Cobblestone Lissencephaly
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Coloboma
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Cysts
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Congenital Mirror Movements Associated With Brain Malformations.
Diabetes Mellitus, Type 2
Generalization of Rare Variant Association Tests for Longitudinal Family Studies.
Eye Abnormalities
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization.
Glioblastoma
PomGnT1 enhances temozolomide resistance by activating epithelial-mesenchymal transition signaling in glioblastoma.
Role of glycosyltransferase PomGnT1 in glioblastoma progression.
Glioma
O-linked mannose ?-1,2-N-acetylglucosaminyltransferase 1 correlated with the malignancy in glioma.
Role of glycosyltransferase PomGnT1 in glioblastoma progression.
Hydrocephalus
Congenital Mirror Movements Associated With Brain Malformations.
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Infections
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Intellectual Disability
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing.
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Laryngomalacia
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Leukemia
A role for dystroglycan in the pathophysiology of acute leukemic cells.
Malformations of Cortical Development, Group II
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Microcephaly
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.
Muscular Dystrophies
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy.
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
Adeno-Associated Viral-Mediated LARGE Gene Therapy Rescues the Muscular Dystrophic Phenotype in Mouse Models of Dystroglycanopathy.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of ?-dystroglycan.
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.
Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene.
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Deficiency of alpha-dystroglycan in muscle-eye-brain disease.
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Journey into muscular dystrophies caused by abnormal glycosylation.
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing.
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization.
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
Muscular Dystrophies, Limb-Girdle
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Journey into muscular dystrophies caused by abnormal glycosylation.
LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing.
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
Neoplasms
Prognostic Implications of Novel Ten-Gene Signature in Uveal Melanoma.
Role of glycosyltransferase PomGnT1 in glioblastoma progression.
Nervous System Diseases
Identification of a novel missense c.386G?>?A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
Neuroblastoma
Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb.
Neuromuscular Diseases
Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.
Polymicrogyria
Congenital Mirror Movements Associated With Brain Malformations.
protein o-mannose beta-1,4-n-acetylglucosaminyltransferase deficiency
Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion.
Retinal Diseases
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Retinitis Pigmentosa
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Walker-Warburg Syndrome
Biochemical correlation of activity of the alpha-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in Muscle-Eye-Brain disease.
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of ?-dystroglycan.
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
Crystal structures of ?-1,4-N-acetylglucosaminyltransferase 2: structural basis for inherited muscular dystrophies.
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose ?1,2-N-acetylglucosaminyltransferase 1 (POMGnT1).
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome.
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.
Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis.
Glycosylation defects: a new mechanism for muscular dystrophy?
Glycosylation in congenital muscular dystrophies.
GTDC2 modifies O-mannosylated ?-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Journey into muscular dystrophies caused by abnormal glycosylation.
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Muscular dystrophies due to defective glycosylation of dystroglycan.
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing.
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
O-mannosylation in mammalian cells.
POMGnT1 gene alterations in a family with neurological abnormalities.
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
RPTP?/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1.
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
[Finding of O-mannosyl glycan in mammals and congenital muscular dystrophies due to glycosylation defects]
[Immunohistochemical studies of a variant of congenital muscular dystrophy]