• The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. (wikipedia.org)
  • Dystrophin is part of a protein complex that connects the cytoskeleton to the extracellular matrix. (frontiersin.org)
  • Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. (nature.com)
  • Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. (thermofisher.com)
  • Dystroglycan is a core and essential component of the dystrophin-glycoprotein complex of muscle and brain, making vital links between the cytoskeleton and laminin in the extracellular matrix. (enmc.org)
  • Sarcospan is a transmembrane component of dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. (embl.de)
  • Normally, dystrophin serves as the bridge in the dystrophin-associated glycoprotein complex (DAPC), connecting the cytoskeleton, via attachments to subsarcolemmal F-actin, to the extracellular matrix through an association with plasma membrane bound β-dystroglycan[ 4 ]. (biomedcentral.com)
  • Without dystrophin, the DAPC cannot completely assemble, and the supportive link between the cytoskeleton and the extracellular matrix becomes destabilized[ 8 ]. (biomedcentral.com)
  • dystrophin: Anchors the extracellular matrix to the cytoskeleton via F-actin. (assaygenie.com)
  • Dystrophin functions as a homotetramer at the costomeres in skeletal muscles, and it gets associated with actin at its N-terminus and the DAG complex at the C-terminus, forming a stable complex that interacts with laminin in the extracellular matrix. (ayurvedapc.blog)
  • The dystrophin glycoprotein complex (DGC) is a membrane-spanning complex that links the interior cytoskeleton to the extracellular matrix in muscle. (umbc.edu)
  • The skeletal muscles of DMD have disrupted dystrophin-glycoprotein complex (DGC) and impaired sarcolemma integrity. (bham.ac.uk)
  • In addition, ne show that in normal muscle α-, β-, and γ-sarcoglycan constitute a tightly associated sarcolemma complex which can not be disrupted by SDS treatment. (elsevierpure.com)
  • Component of the dystrophin- associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. (assaygenie.com)
  • We have shown that dystrophin is a monomer that binds laterally along an actin filament through the concerted actions of two distinct and spatially separated actin binding sites and is necessary for strong mechanical coupling between the sarcolemma and costameric actin filaments. (umn.edu)
  • We have also demonstrated that the dystrophin homologue utrophin can substitute for dystrophin in coupling costameric actin filaments to the sarcolemma when transgenically overexpressed in dystrophin-deficient skeletal muscle and binds actin filaments with similar affinity as dystrophin, but through distinct modes of contact. (umn.edu)
  • For the stability of sarcolemma, dystrophin and dystrophin-associated glycoproteins (DAGs) are very important. (ayurvedapc.blog)
  • González-Herrera L, Gamas-Trujillo PA, García-Escalante MG, Castillo-Zapata I, Pinto-Escalante D. [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy]. (medscape.com)
  • It is a disease of muscle in which there is insufficient dystrophin produced in the muscle cells resulting in instability in the structure of the muscle cell membrane and deletions in the dystrophin gene Xp21 (X chromosome, short arm p, region 2, band 1) [3]. (fortuneonline.org)
  • Dystrophin: the protein product of the Duchenne muscular dystrophy locus. (medscape.com)
  • Duchenne muscular dystrophy (DMD) is an X chromosome-linked disease caused by the absence of the sarcolemmal protein dystrophin. (bham.ac.uk)
  • The transmembrane protein Dystroglycan is a central element of the dystrophin-associated glycoprotein complex, which is involved in the pathogenesis of many forms of muscular dystrophy. (lu.se)
  • article{5f173e96-c6fe-4b5f-8f37-b070076bc387, abstract = {{The transmembrane protein Dystroglycan is a central element of the dystrophin-associated glycoprotein complex, which is involved in the pathogenesis of many forms of muscular dystrophy. (lu.se)
  • The MDA funded Dr. Ervesti's first research grant while a professor at the University of Wisconsin, where he would eventually define the function of the dystrophin-glycoprotein complex in skeletal muscle and start development of a new protein replacement therapy for DMD. (americanrider.com)
  • Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and an X-linked recessive, progressive muscle wasting disease caused by the absence of a functional dystrophin protein. (biomedcentral.com)
  • Dystrophin has a structural role as a cytoskeletal stabilization protein and protects cells against contraction-induced damage. (biomedcentral.com)
  • These results suggest that the reduction of Dp71 protein in the Duchenne muscular dystrophy neurons leads to alterations in SERCA2 and to elevated cytosolic Ca 2+ concentration with consequent potential disruption of the dystrophin proteins and Dp71-associated proteins. (biomedcentral.com)
  • Our unique approach integrates biochemical and biophysical analyses of the very large dystrophin protein with in vivo assessments of its function in transgenic mouse models of muscular dystrophy. (umn.edu)
  • Henderson, D.M., Lee, A. and Ervasti, J.M. (2010) Disease-Causing Missense Mutations in Actin Binding Domain 1 of Dystrophin Induce Thermodynamic Instability and Protein Aggregation. (umn.edu)
  • The dystrophin gene is located on the short arm of chromosome X near the p21 locus and codes for the large protein Dp427. (ayurvedapc.blog)
  • Sarcoglycan complex subunit protein. (umbc.edu)
  • Duchenne and Becker muscular dystrophy (DMD and BMD) are X-chromosomal recessive neuromuscular disorders that are caused by mutations in the dystrophin gene that subsequently lead to either total absence or structural impairment of the dystrophin protein. (biomedcentral.com)
  • Since dystrophin is a central protein in the cell membrane of skeletal as well as cardiac muscle cells, MD patients do not only suffer from skeletal muscle weakness and wasting but also from progressive cardiomyopathy [ 1 , 2 ]. (biomedcentral.com)
  • Ervasti, J.M. & Campbell, K.P. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. (nature.com)
  • He also has advanced his own personal research focused on the mechanisms of muscular dystrophy associated with mutations in the transmembrane dystrophin-glycoprotein complex. (umich.edu)
  • The sarcoglycan complex is a subcomplex within the DGC and is composed of several muscle-specific, transmembrane proteins (alpha-, beta-, gamma-, delta- and zeta-sarcoglycan). (umbc.edu)
  • This mutation in the murine dystrophin gene caused an absence of dystrophin in skeletal muscle and this key defect validated the mdx mouse as a suitable model of the early onset of DMD human disease [ 5 , 6 ]. (hindawi.com)
  • Mutations in the dmd gene are responsible for the Duchenne muscular dystrophy (DMD) disease [ 1 ], in which muscular degeneration is also associated with cognitive defects likely due to loss of the smallest product of the dmd gene, the Dp71 dystrophin isoform [ 2 ]. (biomedcentral.com)
  • Becker's Muscular Dystrophy was diagnosed based on molecular DNA analysis of the dystrophin gene. (fortuneonline.org)
  • Duchenne and Becker muscular dystrophy (DMD and BMD) are X-chromosomal recessive neuromuscular disorders that are caused by mutations in the dystrophin gene and characterized by cardiac involvement. (biomedcentral.com)
  • Here we show that AKT/mTOR and IGF-2/p57\(^{kip2}\) (but not ERK) signalling pathways are upregulated in dystrophin-deficient myoblasts and mouse embryos. (bham.ac.uk)
  • The absence of dystrophin leads to myofiber membrane fragility that results in the progressive muscular degeneration that characterizes DMD ( Sussman, 2002 ). (frontiersin.org)
  • As a postdoctoral scientist at the University of Iowa in the early 90's, Dr. Ervesti identified the dystrophin-glycoprotein complex, which is defective in various forms of muscle disease, most notably Duchenne muscular dystrophy (DMD). (americanrider.com)
  • Loss of the sarcoglycan complex and sarcospan alone is sufficient to cause muscular dystrophy. (embl.de)
  • Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. (biomedcentral.com)
  • DMD (Dystrophin) therapy is the only FDA-approved treatment for Duchenne muscular dystrophy (DMD), a rare, progressive muscle disorder that affects boys and young men. (assaygenie.com)
  • A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. (uchicago.edu)
  • Our objective is to fully define the function of dystrophin in striated muscle to understand how its absence or abnormality leads to the pathologies observed in Duchenne and Becker muscular dystrophies. (umn.edu)
  • We are also investigating small molecule approaches to stabilize aberrant dystrophins expressed in some muscular dystrophy patients. (umn.edu)
  • Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex. (cdc.gov)
  • Description: A sandwich ELISA kit for detection of Dystrophin from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (tissue-cell-culture.com)
  • We establish that there are elevated levels of Cav-3 and Cav-1 proteins in dystrophin-deficient myoblasts and mdx mouse embryos and that Cav-3 and Cav-1 form heterooligomers in adult skeletal muscles. (bham.ac.uk)
  • Dystrophin also serves signaling roles, including mechanotransduction of forces and localization of signaling proteins, such as neuronal nitric oxide synthase (nNOS), which synthesizes nitric oxide (NO) to facilitate vasorelaxation[ 5 - 7 ]. (biomedcentral.com)
  • Multiple proteins are involved in the complex interactions for the proper functioning of the muscles. (ayurvedapc.blog)
  • Dystrophin accounts for only a small amount of the proteins in striated muscle, but it has a vital role in the maintenance of the muscle's membrane integrity. (ayurvedapc.blog)
  • Several of these advances were made possible by methods that we pioneered to express and purify biochemical amounts of full-length recombinant dystrophin and utrophin. (umn.edu)
  • Her lab is focused on understanding the function of the dystrophin-glycoprotein complex, which is so important to the understanding of Duchenne, a progressive muscle-wasting, genetic disease that occurs in children and cuts life expectancy to the mid-teenage years to the 30s. (ucla.edu)
  • Hippocampal full-length dystrophin (Dp427) levels are upregulated in human TLE, but not in AK rats, possibly indicating a compensatory mechanism in the chronic epileptic human brain. (frontiersin.org)
  • Dystrophin deficiency does not always produce muscle degeneration at all life stages, in all muscle phenotypes, or in all animal models [ 8 ]. (hindawi.com)
  • Contribution of oxidative stress to pathology in diaphragm and limb muscles with dystrophin deficiency. (tamu.edu)
  • Less-active forms of dystrophin may still function as a sarcolemmal anchor, but they are not effective as they allow some leakage of intracellular substances. (ayurvedapc.blog)
  • In this study, we show that clonally derived dystrophin-deficient myoblasts PD50A are differentiation impaired. (bham.ac.uk)
  • 2014). Loricrin and involucrin are encoded in 'Epidermal Differentiation Complex' linked to a large number of genes encoding nonredundant components of the CE (Kypriotou et al. (uni-freiburg.de)
  • A stoichiometric complex of neurexins and dystroglycan in brain. (nature.com)
  • and this study sets the stage for analyzing the Dystroglycan complex by using the power of Drosophila molecular genetics. (lu.se)
  • Campbell, K. P. & Kahl, S. D. Association of dystrophin and an integral membrane glycoprotein. (nature.com)
  • We have partially sequenced rabbit skeletal muscle γ-sarcoglycan an integral component of the dystrophin-glycoprotein complex. (elsevierpure.com)
  • Lifelong exercise and mild caloric restriction against disruption of the dystrophin-glycoprotein complex (DGC) in skeletal muscle. (tamu.edu)
  • In dystrophin-deficient skeletal muscle, for example, mechanical injury and proteolysis may be important factors but do not fully explain DMD pathogenesis. (hindawi.com)
  • Immune/inflammatory-mediated mechanisms, which result in muscle cell death and/or mechanisms leading to fibrosis, may be important initiators of lesions in dystrophin-deficient muscle. (hindawi.com)
  • 2017. Ryanodine receptors are part of the myospryn complex in cardiac muscle . (cardiff.ac.uk)
  • Finally, we showed that dystrophin directly binds to microtubules and is required to organize the subsarcolemmal microtubule lattice of skeletal muscle. (umn.edu)
  • 2020. A signaling hub of insulin receptor, dystrophin glycoprotein complex and plakoglobin regulates muscle size. (xinghuayoujiao.com)
  • The Assay Genie Human Dystrophin ELISA is a highly sensitive assay for the quantitative measurement of Dystrophin in serum, blood, plasma, cell culture supernatant and tissue samples. (assaygenie.com)
  • Description: A sandwich quantitative ELISA assay kit for detection of Human Dystrophin (DMD) in samples from tissue homogenates, cell lysates or other biological fluids. (tissue-cell-culture.com)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Dystrophin (DMD) in tissue homogenates, cell lysates and other biological fluids. (tissue-cell-culture.com)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Dystrophin (DMD) in samples from tissue homogenates, cell lysates and other biological fluids with no significant corss-reactivity with analogues from other species. (tissue-cell-culture.com)
  • Since epilepsy is also supposed to constitute a comorbidity of DMD, it is hypothesized that dystrophin plays a role in neuronal excitability. (frontiersin.org)
  • Functionally, dystrophin expressed in the CNS plays an important role in the clustering of neurotransmitter receptors and water- and ion channels to the cellular membrane. (frontiersin.org)
  • Dystrophin also serves a signaling role through mechanotransduction of forces and localization of neuronal nitric oxide synthase (nNOS), which produces nitric oxide (NO) to facilitate vasorelaxation. (biomedcentral.com)
  • Finally, we are also pursuing state-of-the-art in vivo rescue experiments and proteomic screens to further define the physiological role of microtubule lattice organization by dystrophin. (umn.edu)
  • The dystrophin-glycoprotein complex (DGC) play a vital role in transducing the contractile force of myofibrils as well as mitigating contraction-induced damage. (qscience.com)
  • Typically, the glycan biosynthesis locus is cloned and transferred en bloc from the native organism to a suitable Escherichia coli strain. (bvsalud.org)
  • Using atomic force microscope we show that Cav-1 helps maintain the stiffness of dystrophindeficient myotubes while Cav-3 help maintain that of dystrophin-deficient myoblasts. (bham.ac.uk)
  • Dystrophin was expressed in all hippocampal pyramidal subfields and in the molecular-, Purkinje-, and granular cell layer of the cerebellum. (frontiersin.org)
  • Here, we aimed to study brain dystrophin distribution and expression in both, human and experimental temporal lobe epilepsy (TLE). (frontiersin.org)
  • Regional and cellular dystrophin distribution was evaluated in both human and rat hippocampi and in rat cerebellar tissue by immunofluorescent colocalization with neuronal (NeuN and calbindin) and glial (GFAP) markers. (frontiersin.org)
  • Dystrophin is ubiquitously expressed by astrocytes in the human and rat hippocampus and in the rat cerebellum. (frontiersin.org)
  • In vitro , recombinant agrin promotes the division of cardiomyocytes that are derived from mouse and human induced pluripotent stem cells through a mechanism that involves the disassembly of the dystrophin-glycoprotein complex, and Yap- and ERK-mediated signalling. (nature.com)
  • In addition, hippocampal dystrophin levels were estimated by Western blot analysis in biopsies from TLE patients, post-mortem controls, amygdala kindled (AK)-, and control rats. (frontiersin.org)
  • Despite normal development, the membrane in dystrophin-deficient cells is easily damaged. (biomedcentral.com)