| scholarly article | Q13442814 |
| P2093 | author name string | Tatsushi Toda | |
| Motoi Kanagawa | |||
| P2860 | cites work | 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 | ||
| B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan | Q24305043 | ||
| The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation | Q24305058 | ||
| Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy | Q24308069 | ||
| 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 | ||
| Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle | Q59089242 | ||
| Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations | Q70859118 | ||
| The fukutin protein family--predicted enzymes modifying cell-surface molecules | Q73211785 | ||
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | Q77346768 | ||
| 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 | ||
| ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies | Q36581125 | ||
| Molecular mechanisms of muscular dystrophies: old and new players | Q36593241 | ||
| Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. | Q36731388 | ||
| ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan | Q36919737 | ||
| Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. | Q37090108 | ||
| Dolichol-phosphate mannose synthase: structure, function and regulation | Q37127883 | ||
| Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan | Q37200133 | ||
| Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions | Q37254859 | ||
| Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry | Q37572562 | ||
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Mammalian O-mannosylation pathway: glycan structures, enzymes, and protein substrates | Q38208557 | ||
| 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 | ||
| Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane. | Q38424785 | ||
| Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan | Q39437022 | ||
| Recent advancements in understanding mammalian O-mannosylation | Q40092479 | ||
| DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. | Q41933116 | ||
| Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies | Q42524150 | ||
| Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. | Q45886436 | ||
| LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. | Q47375901 | ||
| Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy | Q48873234 | ||
| 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 | ||
| Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation | Q27703190 | ||
| The Fukuyama congenital muscular dystrophy story | Q28139770 | ||
| Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy | Q28205600 | ||
| 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 | ||
| Molecular recognition by LARGE is essential for expression of functional dystroglycan | Q28267964 | ||
| Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness | Q28268157 | ||
| Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? Pathological study of the cerebral cortex of an FCMD fetus | Q28291726 | ||
| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation | Q28478647 | ||
| Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse | Q28589172 | ||
| Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals | Q30050310 | ||
| Structural basis of laminin binding to the LARGE glycans on dystroglycan | Q31121747 | ||
| The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan | Q32884430 | ||
| The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition | Q32884479 | ||
| Site mapping and characterization of O-glycan structures on alpha-dystroglycan isolated from rabbit skeletal muscle. | Q34042753 | ||
| O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. | Q34090655 | ||
| A dystroglycan mutation associated with limb-girdle muscular dystrophy. | Q34767085 | ||
| Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human | Q35008132 | ||
| Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. | Q35056189 | ||
| Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy | Q35189975 | ||
| Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy | Q36141218 | ||
| A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. | Q36232550 | ||
| Dystroglycan: from biosynthesis to pathogenesis of human disease. | Q36367346 | ||
| P275 | copyright license | Creative Commons Attribution-NonCommercial 4.0 International | Q34179348 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 4 | |
| P921 | main subject | muscular dystrophy | Q1137767 |
| P304 | page(s) | 259-267 | |
| P577 | publication date | 2017-10-24 | |
| P1433 | published in | Journal of neuromuscular diseases | Q27726242 |
| P1476 | title | Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy | |
| P478 | volume | 4 |
| Q64044001 | Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness |
| Q92537294 | Identification of mammalian glycoproteins with type-I LacdiNAc structures synthesized by the glycosyltransferase B3GALNT2 |
| Q90362150 | Laminin G-like domains: dystroglycan-specific lectins |
| Q92267937 | Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation |
| Q88238536 | Perspectives on Glycosylation and Its Congenital Disorders |
| Q92050933 | Structural biology of laminins |
| Q60300741 | The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy |
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