Glycobiology of α-dystroglycan and muscular dystrophy

scientific article

Glycobiology of α-dystroglycan and muscular dystrophy is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1093/JB/MVU066
P698PubMed publication ID25381372
P5875ResearchGate publication ID268039032

P2093author name stringTamao Endo
P2860cites workIdentification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1Q22009978
Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3Q22254184
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1Q24291905
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanQ24294992
Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGEQ24301093
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activityQ24303491
Expression and characterization of a human cDNA ...Q24306138
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyQ24308069
Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferaseQ24312078
Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesisQ24314988
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndromeQ24316024
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanQ24316123
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan functionQ24316126
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophyQ24320265
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanQ24321692
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-dystroglycanQ24535942
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeQ24561808
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesQ24651944
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeQ24674153
A stoichiometric complex of neurexins and dystroglycan in brainQ26269938
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-dystroglycanQ28206027
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanQ28249364
Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptorQ28254849
beta4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal developmentQ28254891
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1Q28267719
Molecular recognition by LARGE is essential for expression of functional dystroglycanQ28267964
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrixQ28296676
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationQ28478647
Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formationQ28507319
Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilizationQ28508732
A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAcQ28511795
LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophyQ28512184
LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGEQ28591175
Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2Q28592706
Dystroglycan organizes axon guidance cue localization and axonal pathfindingQ28593913
Membrane organization of the dystrophin-glycoprotein complexQ29615149
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 glycansQ31958365
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 spermatidsQ34162116
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)1Q34277328
Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate transfer regulates laminin-binding glycans on α-dystroglycanQ34288440
Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylationQ34364397
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-dystroglycanQ35841883
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeQ36439344
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyQ36451494
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 bindingQ36981050
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 adhesionQ37421256
Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteinsQ37421355
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entryQ37572562
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 lamininQ38349218
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-dystroglycanopathiesQ40080223
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 residuesQ43528757
Structural and biochemical characterization of O-mannose-linked human natural killer-1 glycan expressed on phosphacan in developing mouse brainsQ43863017
O-glycosylation pattern of CD24 from mouse brainQ44001023
The lecticans of mammalian brain perineural net are O-mannosylatedQ45006757
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 domainQ47434896
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndromeQ47956367
High prevalence of 2-mono- and 2,6-di-substituted manol-terminating sequences among O-glycans released from brain glycopeptides by reductive alkaline hydrolysisQ48123397
Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycanQ48398756
Structural analysis of sequences O-linked to mannose reveals a novel Lewis X structure in cranin (dystroglycan) purified from sheep brainQ48401243
Tissue-specific heterogeneity in alpha-dystroglycan sialoglycosylation. Skeletal muscle alpha-dystroglycan is a latent receptor for Vicia villosa agglutinin b4 masked by sialic acid modificationQ48634703
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 pyrophosphorylaseQ56593612
P433issue1
P921main subjectglycobiologyQ899224
P304page(s)1-12
P577publication date2014-11-07
P1433published inJournal of BiochemistryQ6294839
P1476titleGlycobiology of α-dystroglycan and muscular dystrophy
P478volume157

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cites work (P2860)
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