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Disease on EC 2.4.1.109 - dolichyl-phosphate-mannose-protein mannosyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Brain Diseases
Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.
Muscular dystrophies due to defective glycosylation of dystroglycan.
Brain Neoplasms
Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.
Breast Neoplasms
Genome-wide expression analysis reveals six contravened targets of EZH2 associated with breast cancer patient survival.
Candidiasis
Vaccination with Recombinant Non-transmembrane Domain of Protein Mannosyltransferase 4 Improves Survival during Murine Disseminated Candidiasis.
Cardiomyopathies
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Cleft Lip
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
Cleft Palate
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
Cobblestone Lissencephaly
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.
Contracture
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Cysts
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
Demyelinating Diseases
Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis.
dolichyl-phosphate-mannose-protein mannosyltransferase deficiency
Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.
Encephalocele
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
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.
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
[A Japanese family with POMT2-related limb girdle muscular dystrophy].
Genetic Diseases, Inborn
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
Glioma
Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.
Hydrocephalus
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.
Infections
A gene encoding a homologue of dolichol phosphate-beta-D-mannose synthase is required for infection of Streptomyces coelicolor A3(2) by phage (phi)C31.
Intellectual Disability
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Expanding the clinical spectrum of POMT1 phenotype.
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with ?-dystroglycanopathy.
Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
POMT2 mutation in a patient with 'MEB-like' phenotype.
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Kidney Diseases, Cystic
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
Learning Disabilities
Limb girdle muscular dystrophy due to mutations in
Leukemia
A role for dystroglycan in the pathophysiology of acute leukemic cells.
Lissencephaly
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
Malformations of Cortical Development
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Malformations of Cortical Development, Group II
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Microcephaly
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
POMT2 mutation in a patient with 'MEB-like' phenotype.
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Muscle Hypotonia
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Muscle Weakness
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Muscular Diseases
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene.
Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis.
Muscular Dystrophies
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of ?-dystroglycan glycosylation.
A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
Dystroglycan and protein O-mannosyltransferases 1 and 2 are required to maintain integrity of Drosophila larval muscles.
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.
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.
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.
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.
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with ?-dystroglycanopathy.
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
Protein O-Mannosyltransferases Affect Sensory Axon Wiring and Dynamic Chirality of Body Posture in the
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors.
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
Synaptic defects in a Drosophila model of congenital muscular dystrophy.
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Uniparental disomy unveils a novel recessive mutation in POMT2.
[A Japanese family with POMT2-related limb girdle muscular dystrophy].
[Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].
Muscular Dystrophies, Limb-Girdle
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of ?-dystroglycan glycosylation.
A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Expanding the clinical spectrum of POMT1 phenotype.
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with ?-dystroglycanopathy.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy.
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
Synaptic defects in a Drosophila model of congenital muscular dystrophy.
Uniparental disomy unveils a novel recessive mutation in POMT2.
[A Japanese family with POMT2-related limb girdle muscular dystrophy].
Myopia
Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.
Neoplasms
Circular RNA CpG island hypermethylation-associated silencing in human cancer.
Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.
Genome-wide expression analysis reveals six contravened targets of EZH2 associated with breast cancer patient survival.
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.
Periventricular Nodular Heterotopia
Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.
Scoliosis
A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
Seizures
Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
Tuberculosis
Effect of Protein O-Mannosyltransferase (MSMEG_5447) on M. smegmatis and Its Survival in Macrophages.
Walker-Warburg Syndrome
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of ?-dystroglycan glycosylation.
A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity.
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
Expanding the clinical spectrum of POMT1 phenotype.
Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome.
Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.
Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis.
Glycosylation defects: a new mechanism for muscular dystrophy?
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Muscular dystrophies due to defective glycosylation of dystroglycan.
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
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.
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with ?-dystroglycanopathy.
O-mannosylation in mammalian cells.
Physical and functional association of human protein O-mannosyltransferases 1 and 2.
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
Synaptic defects in a Drosophila model of congenital muscular dystrophy.
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Uniparental disomy unveils a novel recessive mutation in POMT2.
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
[Congenital muscular dystrophy and alpha-dystroglycanopathy]