review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Tamao Endo | |
P2860 | cites work | 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 | Q22009978 |
Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3 | Q22254184 | ||
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | Q24291905 | ||
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan | Q24294992 | ||
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE | Q24301093 | ||
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity | Q24303491 | ||
Expression and characterization of a human cDNA ... | Q24306138 | ||
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy | Q24308069 | ||
Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase | Q24312078 | ||
Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis | Q24314988 | ||
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome | Q24316024 | ||
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan | Q24316123 | ||
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function | Q24316126 | ||
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy | Q24320265 | ||
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan | Q24321692 | ||
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan | Q24535942 | ||
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome | Q24561808 | ||
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies | Q24651944 | ||
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome | Q24674153 | ||
A stoichiometric complex of neurexins and dystroglycan in brain | Q26269938 | ||
Futile protein folding cycles in the ER are terminated by the unfolded protein O-mannosylation pathway. | Q27932449 | ||
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 | Q28206027 | ||
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Q28249364 | ||
Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor | Q28254849 | ||
beta4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal development | Q28254891 | ||
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1 | Q28267719 | ||
Molecular recognition by LARGE is essential for expression of functional dystroglycan | Q28267964 | ||
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix | Q28296676 | ||
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation | Q28478647 | ||
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation | Q28507319 | ||
Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization | Q28508732 | ||
A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc | Q28511795 | ||
LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy | Q28512184 | ||
LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE | Q28591175 | ||
Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2 | Q28592706 | ||
Dystroglycan organizes axon guidance cue localization and axonal pathfinding | Q28593913 | ||
Membrane organization of the dystrophin-glycoprotein complex | Q29615149 | ||
Molecular cloning and characterization of human GnT-IX, a novel beta1,6-N-acetylglucosaminyltransferase that is specifically expressed in the brain. | Q30333340 | ||
A new beta-1,2-N-acetylglucosaminyltransferase that may play a role in the biosynthesis of mammalian O-mannosyl glycans | Q31958365 | ||
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. | Q34090655 | ||
Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids | Q34162116 | ||
N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. | Q34276862 | ||
A novel β(1,6)‐N‐acetylglucosaminyltransferase V (GnT‐VB)1 | Q34277328 | ||
Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate transfer regulates laminin-binding glycans on α-dystroglycan | Q34288440 | ||
Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation | Q34364397 | ||
Decoding arenavirus pathogenesis: essential roles for alpha-dystroglycan-virus interactions and the immune response. | Q34626030 | ||
A dystroglycan mutation associated with limb-girdle muscular dystrophy. | Q34767085 | ||
Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan | Q35841883 | ||
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome | Q36439344 | ||
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly | Q36451494 | ||
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. | Q36731388 | ||
Receptor tyrosine phosphatase beta (RPTPbeta) activity and signaling are attenuated by glycosylation and subsequent cell surface galectin-1 binding | Q36981050 | ||
Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. | Q37090108 | ||
Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion | Q37421256 | ||
Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins | Q37421355 | ||
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry | Q37572562 | ||
Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin | Q38349218 | ||
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. | Q39780818 | ||
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies | Q40080223 | ||
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. | Q41933116 | ||
Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro. | Q42447132 | ||
Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. | Q42524154 | ||
O-glycosylation of the non-canonical T-cadherin from rabbit skeletal muscle by single mannose residues | Q43528757 | ||
Structural and biochemical characterization of O-mannose-linked human natural killer-1 glycan expressed on phosphacan in developing mouse brains | Q43863017 | ||
O-glycosylation pattern of CD24 from mouse brain | Q44001023 | ||
The lecticans of mammalian brain perineural net are O-mannosylated | Q45006757 | ||
Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1). | Q46202191 | ||
Neurofascin 186 is O-mannosylated within and outside of the mucin domain | Q47434896 | ||
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome | Q47956367 | ||
High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysis | Q48123397 | ||
Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan | Q48398756 | ||
Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brain | Q48401243 | ||
Tissue-specific heterogeneity in alpha-dystroglycan sialoglycosylation. Skeletal muscle alpha-dystroglycan is a latent receptor for Vicia villosa agglutinin b4 masked by sialic acid modification | Q48634703 | ||
Brain contains HNK-1 immunoreactive O-glycans of the sulfoglucuronyl lactosamine series that terminate in 2-linked or 2,6-linked hexose (mannose). | Q48730932 | ||
Loss of branched O-mannosyl glycans in astrocytes accelerates remyelination. | Q50912527 | ||
Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. | Q52547348 | ||
Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase | Q56593612 | ||
P433 | issue | 1 | |
P921 | main subject | glycobiology | Q899224 |
P304 | page(s) | 1-12 | |
P577 | publication date | 2014-11-07 | |
P1433 | published in | Journal of Biochemistry | Q6294839 |
P1476 | title | Glycobiology of α-dystroglycan and muscular dystrophy | |
P478 | volume | 157 |
Q59134959 | A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies |
Q38882219 | AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. |
Q36241448 | An evaluation of the evolution of the gene structure of dystroglycan |
Q91783058 | Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion |
Q38936714 | Biological roles of glycans |
Q39010745 | Can Human Pluripotent Stem Cell-Derived Cardiomyocytes Advance Understanding of Muscular Dystrophies? |
Q37200133 | Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan |
Q90045722 | Characterization of dystroglycan binding in adhesion of human induced pluripotent stem cells to laminin-511 E8 fragment |
Q88868959 | Chemoenzymatic Assembly of Mammalian O-Mannose Glycans |
Q64065905 | Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report |
Q33844672 | Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. |
Q92711724 | Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy |
Q41642554 | Differentiation-related glycan epitopes identify discrete domains of the muscle glycocalyx |
Q36419771 | Discovery of a nucleocytoplasmic O-mannose glycoproteome in yeast |
Q38932357 | Distinctive MS/MS Fragmentation Pathways of Glycopeptide-Generated Oxonium Ions Provide Evidence of the Glycan Structure. |
Q39375147 | Dolichol phosphate mannose synthase: a Glycosyltransferase with Unity in molecular diversities. |
Q35709549 | Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy. |
Q26748089 | Enzymes for N-Glycan Branching and Their Genetic and Nongenetic Regulation in Cancer |
Q48684687 | Epigenetic regulation of neural N-glycomics |
Q45835449 | Evaluation of the effect of a floxed Neo cassette within the dystroglycan (Dag1) gene. |
Q49685437 | Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes |
Q37015841 | Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease |
Q94570299 | Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors |
Q64329469 | Facile Chemoenzymatic Synthesis of O-Mannosyl Glycans |
Q36960788 | Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy |
Q46563168 | Genetic and Clinical Advances of Congenital Muscular Dystrophy |
Q36919737 | ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan |
Q54957953 | Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy. |
Q38795106 | Limb-girdle muscular dystrophies - international collaborations for translational research |
Q64233103 | Mammalian O-mannosyl glycans: Biochemistry and glycopathology |
Q64885811 | Mammalian sugar-binding receptors: known functions and unexplored roles. |
Q38848374 | Molecular Functions of Glycoconjugates in Autophagy |
Q41577738 | Mouse models of human ocular disease for translational research |
Q39051467 | Myopathology in the times of modern genetics |
Q39012279 | Nanotechnology in Glycomics: Applications in Diagnostics, Therapy, Imaging, and Separation Processes. |
Q38647928 | Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing |
Q40657565 | Protein O-mannosylation is crucial for human mesencyhmal stem cells fate. |
Q88356313 | Recognizable phenotypes in CDG |
Q47374895 | Structural and functional studies of differentially O-glycosylated analogs of a thrombin inhibitory peptide - variegin. |
Q47552797 | Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. |
Q32884430 | The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan |
Q41820882 | The evolution of the dystroglycan complex, a major mediator of muscle integrity |
Q38443193 | The extracellular matrix compartment of neural stem and glial progenitor cells |
Q32884479 | The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition |
Q28508101 | The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease |
Q38796983 | What Have We Learned from Glycosyltransferase Knockouts in Mice? |
Q92020409 | biAb Mediated Restoration of the Linkage between Dystroglycan and Laminin-211 as a Therapeutic Approach for α-Dystroglycanopathies |
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