Search results for "Dystroglycans"

showing 8 items of 8 documents

Protein targeting to the plasma membrane of adult skeletal muscle fiber: an organized mosaic of functional domains.

2001

The plasma membrane of differentiated skeletal muscle fibers comprises the sarcolemma, the transverse (T) tubule network, and the neuromuscular and muscle-tendon junctions. We analyzed the organization of these domains in relation to defined surface markers, beta-dystroglycan, dystrophin, and caveolin-3. These markers were shown to exhibit highly organized arrays along the length of the fiber. Caveolin-3 and beta-dystroglycan/dystrophin showed distinct, but to some extent overlapping, labeling patterns and both markers left transverse tubule openings clear. This labeling pattern revealed microdomains over the entire plasma membrane with the exception of the neuromuscular and muscle-tendon j…

Caveolin 3Muscle Fibers SkeletalNeuromuscular JunctionMuscle ProteinsProtein Sorting Signalsmedicine.disease_causeCaveolinsT-tubuleDystrophinMiceMembrane MicrodomainsViral Envelope ProteinsProtein targetingmedicineMyocyteAnimalsDystroglycansMuscle SkeletalGlycoproteinsSarcolemmaMembrane GlycoproteinsbiologyCell MembraneSkeletal muscleCell BiologyMolecular biologyTransport proteinCell biologyRatsCytoskeletal ProteinsProtein Transportmedicine.anatomical_structureTubulebiology.proteinFemaleDystrophinExperimental cell research
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Dystroglycan in Skin and Cutaneous Cells: β-Subunit Is Shed from the Cell Surface

2004

In skin, hemidesmosomal protein complexes attach the epidermis to the dermis and are critical for stable connection of the basal epithelial cell cytoskeleton with the basement membrane (BM). In muscle, a similar supramolecular aggregate, the dystrophin glycoprotein complex links the inside of muscle cells with the BM. A component of the muscle complex, dystroglycan (DG), also occurs in epithelia. In this study, we characterized the expression and biochemical properties of authentic and recombinant DG in human skin and cutaneous cells in vitro. We show that DG is present at the epidermal BM zone, and it is produced by both keratinocytes and fibroblasts in vitro. The biosynthetic precursor is…

KeratinocytesCellHuman skinPerlecanDermatologyTransfectionBiochemistryCell LineDystroglycanmedicineExtracellularMyocyteHumansCytoskeletonDystroglycansMolecular BiologyBasement membraneMembrane GlycoproteinsbiologyMembrane ProteinsDermisCell BiologyCell biologyCulture MediaProtein Structure TertiaryCytoskeletal Proteinsmedicine.anatomical_structureBiochemistrybiology.proteinProtein BindingJournal of Investigative Dermatology
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Redistribution of aquaporin-4 in human glioblastoma correlates with loss of agrin immunoreactivity from brain capillary basal laminae

2003

Vasogenic edema is one of the most serious clinical problems in brain tumors and tightly connected to water shifts between the different fluid compartments in the brain. Aquaporin water channels have been recognized to have an important impact on the development of edematous swelling in the brain. Astrocytes, which are believed to induce or at least maintain the blood-brain barrier in the brain capillary endothelial cells, express the aquaporin isoform AQP4. Normally, AQP4 is highly concentrated in the glial membrane where astrocytes contact mesenchymal space, such as perivascular or brain superficial regions. Parenchymal membranes do not show any immunocytochemical AQP4-specific signal. We…

Models NeurologicalSynucleinsAquaporinNerve Tissue ProteinsBiologyAquaporinsBlood–brain barrierBasement MembranePathology and Forensic MedicineCellular and Molecular NeuroscienceGliomaUtrophinmedicineExtracellularAnimalsHumansAgrinDystroglycansAquaporin 4Membrane GlycoproteinsAgrinBrain NeoplasmsEndothelial Cellsmedicine.diseaseImmunohistochemistryRatsCell biologyCytoskeletal Proteinsmedicine.anatomical_structureAquaporin 4Immunologysense organsNeurology (clinical)GlioblastomaAstrocyteActa Neuropathologica
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Identification of a β-Dystroglycan Immunoreactive Subcompartment in Photoreceptor Terminals

2005

PURPOSE Mutations in the dystrophin-associated glycoprotein complex (DGC) cause various forms of muscular dystrophy. These diseases are characterized by progressive loss of skeletal muscle tissue and by dysfunctions in the central nervous system (CNS). The CNS deficits include an altered electroretinogram, caused by an impaired synaptic transmission between photoreceptors and their postsynaptic target cells in the outer plexiform layer (OPL). The DGC is concentrated in the OPL but its exact distribution is controversial. Therefore, the precise distribution of beta-dystroglycan, the central component of the DGC, within the OPL of the mature chick retina, was determined. METHODS Double immuno…

Retinal Bipolar Cellsgenetic structuresPresynaptic TerminalsOuter plexiform layerNerve Tissue ProteinsRetinal Horizontal CellsNeurotransmissionRibbon synapseImaging Three-DimensionalGlycoprotein complexImage Processing Computer-AssistedmedicineDystroglycanAnimalsActive zoneDystroglycansFluorescent Antibody Technique IndirectSynaptic ribbonRetinabiologyAnatomyCell CompartmentationCell biologyMicroscopy Electronmedicine.anatomical_structureMicroscopy Fluorescencebiology.proteinsense organsChickensPhotoreceptor Cells VertebrateInvestigative Opthalmology & Visual Science
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Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

2004

We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of alpha-dystroglycan. In this report we extend these observations and report a clear correlation between the residual expression of alpha-dystroglycan and the phenotype. Three broad categories were identified. Patients at the severe end of the clinical spectrum (MDC1C) were compound heterozygote between a null allele and a missense mutation or carried two missense mutations and displayed a profound depletion of alpha-d…

musculoskeletal diseasesAdultPathologymedicine.medical_specialtyNonsense mutationBlotting WesternDNA Mutational AnalysisMedizinCompound heterozygosityPolymerase Chain ReactionMuscular DystrophiesPathology and Forensic MedicineFetusDystroglycanmedicineMissense mutationHumansPentosyltransferasesMuscular dystrophyChildDystroglycansMuscle SkeletalGeneticsFukutin-related proteinMembrane GlycoproteinsbiologyProteinsmedicine.diseasemusculoskeletal systemImmunohistochemistryCytoskeletal ProteinsPhenotypeMutationbiology.proteinCongenital muscular dystrophyLimb-girdle muscular dystrophyRegular Articles
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Dystroglycan regulates structure, proliferation and differentiation of neuroepithelial cells in the developing vertebrate CNS.

2007

AbstractIn the developing CNS α- and β-dystroglycan are highly concentrated in the endfeet of radial neuroepithelial cells at the contact site to the basal lamina. We show that injection of anti-dystroglycan Fab fragments, knockdown of dystroglycan using RNAi, and overexpression of a dominant-negative dystroglycan protein by microelectroporation in neuroepithelial cells of the chick retina and optic tectum in vivo leads to the loss of their radial morphology, to hyperproliferation, to an increased number of postmitotic neurons, and to an altered distribution of several basally concentrated proteins. Moreover, these treatments also altered the oriented growth of axons from retinal ganglion c…

musculoskeletal diseasesCentral Nervous Systemcongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtySuperior Colliculianimal structuresCellular differentiationNeuroepithelial CellsStem cellsDevelopmentDystrophin-associated protein complexRetinal ganglionAxonal growthMuscular DystrophiesRetina03 medical and health sciences0302 clinical medicineInternal medicineDystroglycanmedicineAnimalsDystroglycansMolecular BiologyCell Shape030304 developmental biologyCell Proliferation0303 health sciencesRetinabiologyfungiCell DifferentiationCell BiologyMuscular dystrophymusculoskeletal systemCell biologyNeuroepithelial cellmedicine.anatomical_structureEndocrinologyRNAiVertebratesbiology.proteinBasal laminaPikachurinStem cellChickens030217 neurology & neurosurgeryDevelopmental BiologyDevelopmental biology
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Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy.

2005

Dystroglycan is a central component of dystrophin-glycoprotein complex that links extracellular matrix and cytoskeleton in skeletal muscle. Although dystrophic chicken is well established as an animal model of human muscular dystrophy, the pathomechanism leading to muscular degeneration remains unknown. We show here that glycosylation and laminin-binding activity of alpha-dystroglycan (alpha-DG) are defective in dystrophic chicken. Extensive glycan structural analysis reveals that Galbeta1-3GalNAc and GalNAc residues are increased while Siaalpha2-3Gal structure is reduced in alpha-DG of dystrophic chicken. These results implicate aberrant glycosylation of alpha-DG in the pathogenesis of mus…

musculoskeletal diseasesanimal structuresGlycosylationGlycosylationBiophysicsBiochemistryChromatography AffinityExtracellular matrixchemistry.chemical_compoundStructural BiologyLamininGeneticsDystroglycanmedicineAnimalsDystroglycanMuscular dystrophyDystrophic chickenDystroglycansMuscle SkeletalMolecular BiologybiologySkeletal muscleCell BiologyMuscular Dystrophy AnimalMuscular dystrophymedicine.diseaseMolecular biologycarbohydrates (lipids)Disease Models Animalmedicine.anatomical_structurechemistrybiology.proteinPikachurinLamininPlant LectinsITGA7ChickensProtein BindingFEBS letters
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The effects of post-translational processing on dystroglycan synthesis and trafficking1

2003

Dystroglycan is a component of the dystrophin glycoprotein complex that is cleaved into two polypeptides by an unidentified protease. To determine the role of post-translational processing on dystroglycan synthesis and trafficking we expressed the dystroglycan precursor and mutants thereof in a heterologous system. A point mutant in the processing site, S655A, prevented proteolytic cleavage but had no effect upon the surface localisation of dystroglycan. Mutation of two N-linked glycosylation sites that flank the cleavage site inhibited proteolytic processing of the precursor. Furthermore, chemical inhibition of N- and O-linked glycosylation interfered with the processing of the precursor a…

musculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesanimal structuresCOS cellsGlycosylationbiologyLactacystinBiophysicsCell Biologymusculoskeletal systemCleavage (embryo)BiochemistryDystroglycanschemistry.chemical_compoundchemistryBiochemistryStructural BiologyGeneticsbiology.proteinDystroglycanPikachurinBinding sitetissuesMolecular BiologyFEBS Letters
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