• Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene locus, is expressed on the muscle fiber surface. (rupress.org)
  • Duchenne Muscular Dystrophy (DMD) is a progressive lethal disease caused by X-linked mutations of the dystrophin gene. (springer.com)
  • Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder caused by a mutation in the dystrophin gene. (springer.com)
  • Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. (biomedcentral.com)
  • Patterns of dystrophin and β-galactosidase expression were examined in mdx mice after i.m. injections of synthetic microspheres (MF-2) loaded with full-length (pHSADy) or mini-dystrophin gene (pSG5dys) cDNA plasmid constructs or with LacZ marker gene (pCMV-LacZ). (nature.com)
  • We report here for the first time efficient transfection of mdx mice myofibers with dystrophin gene constructs delivered in vivo by the microsphere particles MF-2. (nature.com)
  • The levels of dystrophin gene expression in different skeletal muscles as a function of time was examined in mdx mice after a single i.m. administration of microspheres loaded with 25 μg of full-length dystrophin cDNA (MF2/pHSADy). (nature.com)
  • Consistently, only minimum amount of dystrophin expression can be detected in the cardiac muscle even after repeated injections of both 2OMePS AON and PMO in all mdx mice aged 6 months or younger (Lu et al. (fitness-vip.com)
  • Because dysferlin and dystrophin play different roles in maintaining muscle cell integrity, we hypothesized that disrupting sarcolemmal integrity with dystrophin deficiency would exacerbate the pathology in dysferlin-null mice and allow further characterization of the role of dysferlin in skeletal muscle. (biomedcentral.com)
  • To test our hypothesis, we generated dystrophin/dysferlin double-knockout (DKO) mice by breeding mdx mice with dysferlin-null mice and analyzed the effects of a combined deficiency of dysferlin and dystrophin on muscle pathology and sarcolemmal integrity. (biomedcentral.com)
  • Dystrophin/dysferlin-deficient mice provide a very useful model with which to evaluate the effectiveness of therapies designed to treat dysferlin deficiency. (biomedcentral.com)
  • In DMD patients and mdx mice, which also have a mutation in the dystrophin gene, loss of dystrophin disrupts the link between the cytoskeleton and the ECM, leading to the loss of sarcolemmal integrity. (biomedcentral.com)
  • The treated mice show persistent production of dystrophin at normal levels in large numbers of muscle fibers and show functional improvement of the treated muscle. (qxmd.com)
  • At 90 days post-transplant, dystrophin expression in cardiac muscles of DEC injected mice significantly increased (15.73% ± 5.70 -MB wt /MB mdx and 5.22% ± 1.10 - MB wt /MSC mdx DEC) when compared to vehicle injected controls (2.01% ± 1.36) and, correlated with improved ejection fraction and fractional shortening on echocardiography. (springer.com)
  • In the high-dose cohort (n=3) for whom 12-month data are available, the mean percent normal dystrophin at 12 months was 51.6% mean normal dystrophin level. (medicalbiochemist.com)
  • Dystrophin is a complex plasmalemmal-cytoskeletal linker protein that possesses multiple functional domains, autosomal and X-linked homologs and associated binding proteins that form multiunit signaling complexes whose composition is unique to each cellular and developmental context. (elsevier.com)
  • In DMD/BMD, the individual profiles of cognitive and behavioral deficits, mental retardation and other phenotypic variations appear to depend on complex profiles of transcriptional regulation associated with individual dystrophin mutations that result in the corresponding presence or absence of individual brain dystrophin isoforms that normally exhibit developmental, regional and cell-type-specific expression and functional regulation. (elsevier.com)
  • Thus, splicing around mutations can generate a shortened but in-frame transcript, permitting translation of a partially functional dystrophin protein. (qxmd.com)
  • We previously reported functional improvements correlating with dystrophin restoration following transplantation of Dystrophin Expressing Chimeric Cells (DEC) of myoblast origin in the mdx and mdx/scid mouse models. (springer.com)
  • Eteplirsen is a morpholino antisense oligomer that triggers the excision of the out-of-frame exon 51 during the pre-mRNA splicing of the dystrophin RNA transcript, leading to the production of truncated, yet functional dystrophin. (biovox.eu)
  • Solid Biosciences is preparing an initial clinical trial for an AAV-based therapy that delivers a shortened, yet functional version of dystrophin) and gene editing therapy (e.g. (biovox.eu)
  • The key challenge with these ongoing approaches will be to impact a sufficiently high fraction of the muscle cells and to supply enough functional dystrophin to restore muscle function. (biovox.eu)
  • It is caused by mutations in the gene encoding dystrophin, which is responsible for connecting the cytoskeleton of muscle fibers to the extracellular matrix. (biovox.eu)
  • Through additional interactions with a variety of proteins of the extracellular matrix, plasma membrane, cytoskeleton and distinct intracellular compartments, brain dystrophin acquires the capability to participate in the modulatory actions of a large number of cellular signaling pathways. (elsevier.com)
  • Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with β-dystroglycan. (biomedcentral.com)
  • Dystrophin plays an important role in linking the cytoskeleton to the sarcolemma through the direct interactions of its N-terminus with F-actin and its C-terminus with β-dystroglycan [ 2 ]. (biomedcentral.com)
  • Therefore, connection of defined areas of plasma membrane or its constituents such as ion channels to single sarcomeres might be a potential function exerted by dystrophin alone or in conjunction with other submembrane cytoskeletal proteins. (rupress.org)
  • Dystrophin is a vital structural link between the extracellular matrix and the cytoskeletal proteins and plays an essential role in several important biochemical extracellular signaling pathways. (springer.com)
  • In skeletal muscle, there are a few known PDZ-domain proteins, which include neuronal nitric oxide synthase and syntrophin, both of which are components of the dystrophin complex, and actinin-associated LIM protein, which binds to the spectrin-like repeats of alpha-actinin-2. (unipd.it)
  • The absence of dystrophin disrupts this link, leading to compromised muscle sarcolemmal integrity. (biomedcentral.com)
  • It results from mutations in an exceptionally large gene which encodes the sarcolemma-bound protein dystrophin. (nature.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. (bosterbio.com)
  • However, the rate of force recovery within 45 minutes following lengthening contractions was hampered in DKO muscles compared to mdx muscles or dysferlin-null muscles, suggesting that dysferlin is required for the initial recovery from lengthening contraction-induced muscle injury of the dystrophin-glycoprotein complex-compromised muscles. (biomedcentral.com)
  • Dystrophin is an integral component of the dystrophin-glycoprotein complex (DGC) and is localized to the inner surface of the plasma membrane [ 2 ]. (biomedcentral.com)
  • Direct visualization of the dystrophin network on skeletal muscle fiber membrane. (rupress.org)
  • We have shown that dystrophin molecules are not uniformly distributed over the humen, rat, and mouse skeletal muscle fiber surface using three independent methods. (rupress.org)
  • Incubation of single-teased muscle fibers with antibodies to dystrophin revealed a network of denser transversal rings (costameres) and finer longitudinal interconnections. (rupress.org)
  • Mechanical skinning of single-teased fibers revealed tighter mechanical connection of dystrophin to the plasma membrane than to the underlying internal domain of the muscle fiber. (rupress.org)
  • The entire dystrophin network remained preserved in its structure on isolated muscle sarcolemma and identical in appearance to the pattern observed on teased fibers. (rupress.org)
  • The results of our study suggest that dysferlin-mediated membrane repair helps to limit the dystrophic changes in dystrophin-deficient skeletal muscle. (biomedcentral.com)
  • Dystrophin deficiency clinically manifests as skeletal and cardiac muscle weakness, leading to muscle wasting and premature death due to cardiac and respiratory failure. (springer.com)
  • PF-06939926 is an investigational gene transfer therapy intended to deliver its mini-dystrophin-encoding gene to muscle tissue for the targeted production of the micro-dystrophin protein. (medicalbiochemist.com)
  • AAV9.Muscle-promoter.micro-dystrophin). (medicalbiochemist.com)
  • AAV9.MuscleProtomter.mini-dystrophin (3.9Kb), The propriety muscle promoter drives the expression of the minidystrophin gene in the muscle tissue. (medicalbiochemist.com)
  • The Phase 1b study conducted to determine the safety and tolerability of the AAV9.Muscle-promoter.micro-dystrophin is completed and one year data is provided in the ASGCT Investor call. (medicalbiochemist.com)
  • The absence of any efficient pharmaceutical or biological (myoblast transplantation) methods for the treatment of DMD makes the development of gene therapy approaches for widespread systemic delivery of dystrophin gene to skeletal muscles very urgent for the correction and management of this primary lethal genetic disorder. (nature.com)
  • Out-of-frame mutations in DMD lead to absence of the dystrophin protein, while in-frame BMD mutations cause production of internally deleted dystrophin. (bmj.com)
  • 2008). This is further supported by the restoration of dystrophin in cardiac muscles via AAV-mediated AON delivery (Denti et al. (fitness-vip.com)
  • Dystrophin deficiency in DMD/BMD patients and in the mdx mouse model appears to impair intracellular calcium homeostasis and to disrupt multiple protein-protein interactions that normally promote information transfer and signal integration from the extracellular environment to the nucleus within regulated microdomains. (elsevier.com)
  • Dystrophin deficiency unmasks the function of dysferlin in membrane repair during lengthening contractions. (biomedcentral.com)
  • MF-2/dystrophin cDNA par- ticles were detected by FISH analysis in about 60-70% of myofiber nuclei in muscles of injected and contralateral limbs 7 days after application. (nature.com)
  • The presence of human dystrophin cDNA and its products in all skeletal muscles and in different internal organs was proven by PCR and RT-PCR analysis. (nature.com)
  • 2006), whereas the same treatment can induce high levels of dystrophin in skeletal muscles. (fitness-vip.com)
  • However, direct injection of AON into cardiac muscles showed effective dystrophin induction, suggesting that lower delivery efficiency is perhaps the most critical factor (Vitiello et al. (fitness-vip.com)
  • High levels of dystrophin cDNA expression, and an efficient distant transfection effect with preferential intranuclei inclusion of MF-2 vehicle, are very encouraging for the development of a new constructive strategy in gene therapy trials of DMD. (nature.com)
  • One key to further understanding of the cellular function of dystrophin would be extended knowledge about its subcellular organization. (rupress.org)
  • Seven promoters scattered throughout the huge DMD/BMD gene locus normally code for distinct isoforms of the gene product, dystrophin, that exhibit nervous system developmental, regional and cell-type specificity. (elsevier.com)
  • By contrast, in the mature brain, dystrophin is preferentially expressed by specific regional neuronal subpopulations within proximal somadendritic microdomains associated with synaptic terminal membranes. (elsevier.com)
  • Mouse IgG monoclonal antibody for Dystrophin, dystrophin (DMD) detection. (bosterbio.com)
  • Dystrophin and mutations: one gene, several proteins, multiple phenotypes. (nih.gov)
  • Rare mutations also account for the allelic disorder X-linked dilated cardiomyopathy, in which dystrophin expression or function is affected mostly or exclusively in the heart. (nih.gov)
  • Here, we focus on current understanding of the genotype-phenotype relation for mutations in the dystrophin gene and their implications for gene functions. (nih.gov)
  • Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. (hindawi.com)
  • Dystrophin localizes at the X chromosome, whose mutations might result in Duchenne muscular dystrophy, Becker muscular dystrophy and X-linked dilated cardiomyopathy. (biomedsearch.com)
  • Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. (nih.gov)
  • Duchenne muscular dystrophy, or DMD, is caused by mutations in the gene that encodes dystrophin, which plays a role in stabilizing the membrane of muscle fibers. (eurekalert.org)
  • Many different types of mutations can lead to DMD, some of which block dystrophin production altogether and others that result in a protein that doesn't function normally. (eurekalert.org)
  • Muscle biopsies revealed that, despite the genetic mutations, the patients were producing significant amounts of a slight smaller yet functioning dystrophin. (eurekalert.org)
  • In explaining the mild symptoms seen in many patients with mutations in the first exons of the dystrophin gene -- including the group of patients they first described in 2009 -- the researchers have now demonstrated that dystrophin can be produced by an alternate cellular mechanism in which capping of the messenger RNA is not required. (eurekalert.org)
  • Although clinical trials are currently investigating drugs to treat the more common gene mutations found in the middle of the dystrophin gene, no current therapies are specifically directed toward the approximately 6 percent of patients with mutations affecting the first four exons. (eurekalert.org)
  • Mutations in the DMD gene result in absent/non-functional muscle dystrophin protein in DMD and shortened/partially functional protein in BMD. (nature.com)
  • It results from mutations in an exceptionally large gene which encodes the sarcolemma-bound protein dystrophin. (nature.com)
  • Duchenne muscular dystrophy (DMD) is a fatal genetic disease caused by mutations in the dystrophin gene. (ahajournals.org)
  • Among them, dystrophin strengthens the sarcolemma through protein-lipid interactions, and its absence due to gene mutations leads to the severe Duchenne muscular dystrophy. (cea.fr)
  • Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and structural defects in the neuromuscular synapse that are caused by mutations in dystrophin. (pubmedcentralcanada.ca)
  • Due to the large size of the dystrophin gene (79 exons), finding point mutations (substitutions, deletions or insertions of one or several nucleotides) has been prohibitively expensive and laborious. (harvard.edu)
  • The aim of this project was to develop an effective and convenient method of finding all, or most, mutations in the dystrophin gene with only a moderate increase in cost. (harvard.edu)
  • Results: Using denaturing high performance liquid chromatography (DHPLC) screening and direct sequencing, 86 PCR amplicons of genomic DNA from the dystrophin gene were screened for mutations in eight patients diagnosed with DMD who had tested negative for large DNA rearragements. (harvard.edu)
  • Conclusions: We have shown that it is now feasible for clinical laboratories to begin testing for both point mutations and large deletions/duplications in the dystrophin gene. (harvard.edu)
  • Muscular dystrophy is caused by mutations in a large, complex gene that produces dystrophin. (umich.edu)
  • Monaco et al found that frame shift mutations in the DMD gene will lead to a truncated and non-functional form of dystrophin [ 1 ], which become the primary cause of the disease. (springer.com)
  • Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish. (springer.com)
  • Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene (DMD) that result in progressive, debilitating muscle weakness, cardiomyopathy, and a shortened lifespan. (jci.org)
  • Mutations of dystrophin that disrupt the amino-terminal actin-binding domain 1 (ABD-1), encoded by exons 2-8, represent the second-most common cause of DMD. (jci.org)
  • These findings represent an important step toward eventual correction of common DMD mutations and provide a means of rapidly assessing the expression and function of internally truncated forms of dystrophin-lacking portions of ABD-1. (jci.org)
  • Primary mutations in the dystrophin gene result in the absence of the protein in DMD, and mutations in any one of four sarcoglycan (á, â, ä, ã) genes results in a loss of the entire sarcoglycan complex in LGMD. (pitt.edu)
  • Duchenne muscular dystrophy (DMD) results from mutations that disrupt the DMD gene open reading frame causing an absence of dystrophin protein. (surrey.ac.uk)
  • Genetic mutations resulting in the absence of dystrophin cause Duchenne muscular dystrophy, and those resulting in insufficient or abnormal dystrophin cause Becker muscular dystrophy. (thefreedictionary.com)
  • These mutations have remained undetected in most patients, both male and female, because available techniques are relatively expensive and laborious given the size of the dystrophin gene. (biomedcentral.com)
  • Duchenne muscular dystrophy (DMD) is the most common, serious form of muscular dystrophy and is caused by mutations in the large dystrophin gene. (edu.au)
  • In DMD/BMD, the individual profiles of cognitive and behavioral deficits, mental retardation and other phenotypic variations appear to depend on complex profiles of transcriptional regulation associated with individual dystrophin mutations that result in the corresponding presence or absence of individual brain dystrophin isoforms that normally exhibit developmental, regional and cell-type-specific expression and functional regulation. (elsevier.com)
  • Mutations in the genes coding for either dystrophin or dysferlin cause distinct forms of muscular dystrophy. (biomedcentral.com)
  • Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease arising from defects in the dystrophin gene, typically nonsense or frameshift mutations, that preclude the synthesis of a functional protein. (edu.au)
  • Duchenne muscular dystrophy is caused by mutations arising in the dystrophin gene, which impair the translation of dystrophin through the formation of premature termination codons. (wikipedia.org)
  • Dystrophin is a sub-sarcolemmal component of skeletal muscle fibres and is enriched at the postsynaptic membrane of the neuromuscular junction (NMJ). (mendeley.com)
  • While dystrophin in skeletal muscle has been extensively studied, the function of dystrophin in vascular smooth muscle is less clear. (sigmaaldrich.com)
  • Fast skeletal muscles of mdx (X chromosome-linked muscular dystrophy) mice were injected after birth with a recombinant adenovirus containing a minidys- trophin gene, a 6.3-kbp cDNA coding for the N- and C-terminal ends of dystrophin. (pnas.org)
  • Collectively, these data suggest dystrophin directly organizes and/or stabilizes costameric MTs and classifies dystrophin as a cytolinker in skeletal muscle. (rupress.org)
  • Collectively, these data support the hypothesis that dystrophin may function as a cytolinker in skeletal muscle. (rupress.org)
  • The presence of human dystrophin cDNA and its products in all skeletal muscles and in different internal organs was proven by PCR and RT-PCR analysis. (nature.com)
  • The absence of any efficient pharmaceutical or biological (myoblast transplantation) methods for the treatment of DMD makes the development of gene therapy approaches for widespread systemic delivery of dystrophin gene to skeletal muscles very urgent for the correction and management of this primary lethal genetic disorder. (nature.com)
  • The levels of dystrophin gene expression in different skeletal muscles as a function of time was examined in mdx mice after a single i.m. administration of microspheres loaded with 25 μg of full-length dystrophin cDNA (MF2/pHSADy). (nature.com)
  • DMD with a nonsense mutation is caused by a single base variation in a person's DNA, which leads to incomplete dystrophin production in the skeletal, smooth and cardiac muscle fibres. (nice.org.uk)
  • Immunoblots of affected heart and skeletal muscle showed a dramatic reduction of dystrophin protein and histopathology of affected hearts indicated muscle fiber degeneration. (biomedcentral.com)
  • 2006), whereas the same treatment can induce high levels of dystrophin in skeletal muscles. (fitness-vip.com)
  • While these treatments hold great promise for improving skeletal muscle, Bronson explains that their impact may not be as robust in the heart: "Refining the selection of which DMD gene sequences are included in the mini-dystrophin gene may allow for improved cardiac function. (pharmiweb.com)
  • The CT domain was not included in the mini- or micro-dystrophin genes in current clinical trials as it had no contribution to skeletal muscle. (pharmiweb.com)
  • While the focus of this research is on improving cardiac function through modified mini-dystrophin genes, skeletal muscle function will be evaluated. (pharmiweb.com)
  • The hope is not to protect the heart at the expense of skeletal muscle, but to generate mini-dystrophin genes that can fulfill both roles. (pharmiweb.com)
  • The current versions of the minimized dystrophin gene are designed based on the knowledge of dystrophin structure-function relationship in skeletal muscle. (pharmiweb.com)
  • Role of Toll-like receptors in the pathogenesis of dystrophin-deficient skeletal and heart muscle. (kennedykrieger.org)
  • We hypothesized that leaky dystrophin-deficient skeletal muscle releases endogenous danger signals (TLR ligands), which bind to Toll-like receptors (TLRs) on muscle and immune cells and activate downstream processes that facilitate degeneration and regeneration in dystrophic skeletal muscle. (kennedykrieger.org)
  • 4 The mechanism(s) by which the absence of dystrophin causes the myodegenerative disorder is still unclear, although it has been suggested that dystrophin may be responsible for maintaining the cell shape in skeletal fibers and for the clustering of acetylcholine receptor molecules at the neuromuscular junction. (arvojournals.org)
  • Direct visualization of the dystrophin network on skeletal muscle fiber membrane. (rupress.org)
  • We have shown that dystrophin molecules are not uniformly distributed over the humen, rat, and mouse skeletal muscle fiber surface using three independent methods. (rupress.org)
  • The absence of dystrophin complex leads to disorganization of the force-transmitting costameric cytoskeleton and disruption of sarcolemmal membrane integrity in skeletal muscle. (rupress.org)
  • These data suggest that dystrophin defects are not a common cause of idiopathic DCM in this age group in the absence of skeletal muscle cramps or weakness. (elsevier.com)
  • Dystrophin is a high molecular weight protein localized under the sarcolemma of normal extrafusal muscle fibers but absent in skeletal muscles of Duchenne muscular dystrophy patients and in the mdx mouse. (ubc.ca)
  • Because dysferlin and dystrophin play different roles in maintaining muscle cell integrity, we hypothesized that disrupting sarcolemmal integrity with dystrophin deficiency would exacerbate the pathology in dysferlin-null mice and allow further characterization of the role of dysferlin in skeletal muscle. (biomedcentral.com)
  • The results of our study suggest that dysferlin-mediated membrane repair helps to limit the dystrophic changes in dystrophin-deficient skeletal muscle. (biomedcentral.com)
  • We have investigated muscle-bone interactions using two mouse mutants that are known to differ from normal mice in skeletal muscle growth and development: mice lacking myostatin (GDF8) and mice lacking dystrophin (mdx). (elsevier.com)
  • Whether aberrant neuromuscular synapse structure is an indirect consequence of muscle degeneration or a direct result of loss of dystrophin function is not known. (pubmedcentralcanada.ca)
  • Homology and protein-binding similarities have led to the idea that dystrobrevin partially compensates for the loss of dystrophin in dystrophic muscle. (biologists.org)
  • In DMD patients and mdx mice, which also have a mutation in the dystrophin gene, loss of dystrophin disrupts the link between the cytoskeleton and the ECM, leading to the loss of sarcolemmal integrity. (biomedcentral.com)
  • Synthetic peptide within Human Dystrophin aa 3650 to the C-terminus (C terminal). (abcam.com)
  • Recombinant adeno-associated virus (AAV) carrying a truncated human dystrophin gene (mini-dystrophin) expressed from a cytomegalovirus (CMV) promoter. (clinicaltrials.gov)
  • Recombinant human dystrophin fragment. (bosterbio.com)
  • The data suggest that utrophin and dystrophin have complementing roles in normal functional or developmental pathways in muscle. (nih.gov)
  • Using metabolic profiles of diaphragm, models were built describing dystrophin and utrophin, a dystrophin related protein, expression. (ox.ac.uk)
  • e) A C-terminally truncated common ancestor of dystrophin and utrophin in cyclostomes. (biomedcentral.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. (abcam.com)
  • Your search returned 13 sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) ELISA ELISA Kit across 1 supplier. (biocompare.com)
  • Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. (biomedsearch.com)
  • Biochemical analyses revealed that mouse muscle FKRP and dystroglycan co-enrich and co-fractionate, indicating that FKRP coexists with dystroglycan in the native dystrophin-glycoprotein complex. (biomedsearch.com)
  • These data offer the first evidence of an FKRP complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin-glycoprotein complex. (biomedsearch.com)
  • It is a crucial component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix providing structural stability to muscle fibers 12 , 13 . (nature.com)
  • Dystrophin and beta-dystroglycan are components of the dystrophin-glycoprotein complex (DGC), a multimolecular assembly that spans the cell membrane and links the actin cytoskeleton to the extracellular basal lamina. (rcsb.org)
  • Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in muscle damage. (mdpi.com)
  • Auf www.antikoerper-online.de finden Sie aktuell 59 Sarcoglycan, beta (43kDa Dystrophin-Associated Glycoprotein) (SGCB) Antikörper von 19 unterschiedlichen Herstellern. (antikoerper-online.de)
  • Insgesamt sind aktuell 77 Sarcoglycan, beta (43kDa Dystrophin-Associated Glycoprotein) Produkte verfügbar. (antikoerper-online.de)
  • Muscle analysis, performed at the age of 4 and 9-months, showed the presence of the mutated beta-sarcoglycan protein and of the other components of the dystrophin-associated glycoprotein complex at the muscle membrane. (antikoerper-online.de)
  • Zusätzlich bieten wir Ihnen Sarcoglycan, gamma (35kDa Dystrophin-Associated Glycoprotein) Proteine (10) und viele weitere Produktgruppen zu diesem Protein an. (antikoerper-online.de)
  • Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. (creative-biogene.com)
  • The dystrophin-glycoprotein complex (DGC) is localized and integrated into the cell membrane. (wku.edu)
  • However, the rate of force recovery within 45 minutes following lengthening contractions was hampered in DKO muscles compared to mdx muscles or dysferlin-null muscles, suggesting that dysferlin is required for the initial recovery from lengthening contraction-induced muscle injury of the dystrophin-glycoprotein complex-compromised muscles. (biomedcentral.com)
  • Dystrophin is an integral component of the dystrophin-glycoprotein complex (DGC) and is localized to the inner surface of the plasma membrane [ 2 ]. (biomedcentral.com)
  • although their function is not well understood, they each (via their signature C-terminal domains) form the core of a membrane-bound complex comprising dystroglycan, sarcoglycans and syntrophins, known as the dystrophin-glycoprotein complex (DGC) [ 5 ]. (biomedcentral.com)
  • Three promoters express full-length dystrophin, while two promoters near the C terminus express the last domains in a mutually exclusive manner. (nih.gov)
  • 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)
  • Lentiviral vectors can be used for full-length dystrophin gene therapy. (physiciansweekly.com)
  • Viral gene transfer of full-length dystrophin could restore wild-type functionality, although this approach is restricted by the limited capacity of recombinant viral vectors. (physiciansweekly.com)
  • Lentiviral vectors can package larger transgenes than adeno-associated viruses, yet lentiviral vectors remain largely unexplored for full-length dystrophin delivery. (physiciansweekly.com)
  • During this work, we discovered that a standard, unmodified lentiviral vector was efficient in delivering full-length dystrophin to target cells, within a total genomic load of more than 15,000 base pairs. (physiciansweekly.com)
  • Ultimately, our work demonstrates proof-of-concept that lentiviruses can be used for permanent full-length dystrophin gene therapy, which presents a significant advancement in developing an effective treatment for DMD. (physiciansweekly.com)
  • Genotype definition of the dystrophin gene in patients with dystrophinopathies has taught us much about functionally important domains of the protein itself and has provided insights into several regulatory mechanisms governing the gene expression profile. (nih.gov)
  • Thus, the minimal dystrophin level required for normal NMJ function and morphology lies between 19% and 50% of normal when expression of dystrophin is not uniform. (mendeley.com)
  • We detected a down-regulation of dystrophin, dystroglycan and β-sarcoglycan mRNA expression when vascular smooth muscle cells de-differentiate in vitro. (sigmaaldrich.com)
  • 40% of control and significantly higher dystrophin (P = 0.013), β-dystroglycan (P = 0.025) and neuronal nitric oxide synthase (P = 0.034) expression was observed in asymptomatic individuals versus symptomatic patients with Becker muscular dystrophy. (nih.gov)
  • Comparative immunohistochemical analysis of dystrophin expression in 17 patients with Becker muscular dystrophy with in-frame deletions. (nih.gov)
  • Western blotting and immunohistochemistry are the two established methods for the detection of abnormalities of dystrophin expression in muscle biopsies. (thermofisher.com)
  • Antisense-mediated exon-skipping represents one of the most promising approaches for the treatment of DMD because of its capacity to correct the reading frame and restore dystrophin expression," said Steve Wilton, Ph.D. Professor at the Center for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Western Australia, Australia and co-author of the study. (scienceblog.com)
  • High levels of dystrophin cDNA expression, and an efficient distant transfection effect with preferential intranuclei inclusion of MF-2 vehicle, are very encouraging for the development of a new constructive strategy in gene therapy trials of DMD. (nature.com)
  • These exciting results will support more effective clinical trials for examining myofibers dystrophin expression by driving a greater level of consistency and detail," says Trevor D. Johnson, Flagship Biosciences CEO. (prweb.com)
  • Here, we aimed to study brain dystrophin distribution and expression in both, human and experimental temporal lobe epilepsy (TLE). (frontiersin.org)
  • Herein we investigated whether the distribution and functional properties of Kir4.1 channels are dependent on expression of the Dp71, a dystrophin isoform expressed in Müller cells. (jneurosci.org)
  • Micro-dystrophin expression and cardiac function were analyzed six weeks to four months post gene transfer. (ahajournals.org)
  • Immunofluorescence staining revealed widespread micro-dystrophin expression in the heart. (ahajournals.org)
  • Rational design of truncated dystrophins has enabled the design of expression cassettes highly effective at preventing muscle degeneration in mouse models of DMD using gene therapy. (pubmedcentralcanada.ca)
  • The se verity of symptoms correlates with the degree to which expression of dystrophin is impaired. (umich.edu)
  • We assessed the exon skipping level, transcriptional expression of myostatin and its target genes, and combined myostatin and several dystrophin AONs. (springer.com)
  • Current translational research is methodologically hampered by the lack of a reporter mouse model, which would allow direct visualization of dystrophin expression as well as longitudinal in vivo studies. (unboundmedicine.com)
  • All three exon deletion strategies enabled the expression of truncated dystrophin protein and restoration of cardiomyocyte contractility and calcium transients to varying degrees. (jci.org)
  • In patients with some expression of dystrophin, the absence of a particular region of the DMD gene was associated with higher incidence of cardiac disease. (pharmiweb.com)
  • 3%) or no expression of dystrophin in muscle. (portlandpress.com)
  • Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, missing important functional domains. (physiciansweekly.com)
  • We have demonstrated gene therapy with this vector by restoring dystrophin expression in DMD myoblasts, where dystrophin was expressed at the sarcolemma of myotubes after myogenic differentiation. (physiciansweekly.com)
  • Here, we demonstrate that dystrophin-deficient mouse muscle cells show increased expression of several cell-surface and endosomal TLRs. (kennedykrieger.org)
  • Single-stranded DNA oligonucleotides that were designed to repair this splice site mutation corrected the mutation in the gene and restored expression of wild-type dystrophin. (nih.gov)
  • The 2OMeAO was able to restore dystrophin expression in vitro and in vivo when complexed with delivery agents. (edu.au)
  • miR-31 is part of the circuit controlling late muscle differentiation by repression of dystrophin synthesis, and its expression is localised specifically to regenerating myoblasts of dystrophic muscles. (wikipedia.org)
  • 1, 2 Myofibers lacking dystrophin are abnormally susceptible to contraction-induced sarcolemma damage with subsequent myofiber dysfunction, necrosis and regeneration leading ultimately to the replacement of the lost fibers by adipose and connective tissue and premature death often associated with cardiomyopathy. (nature.com)
  • The absence of dystrophin at the sarcolemma also delocalizes and downregulates nitric oxide synthase (nNOS) and alters enzymatic antioxidant responses, leading to an increase in oxidative stress. (mdpi.com)
  • These results position archvillin (zeige SVIL Antikörper ) as a mechanically sensitive component of the dystrophin (zeige DMD Antikörper ) complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus. (antikoerper-online.de)
  • Despite restoration of sarcolemmal α-syntrophin, neuronal nitric oxide synthase (nNOS) was not localized to the sarcolemma, suggesting that nNOS requires both dystrophin and α-syntrophin for correct localization. (biologists.org)
  • It is α-dystrobrevin-2a that is most abundant on the sarcolemma where it colocalizes with dystrophin. (biologists.org)
  • The entire dystrophin network remained preserved in its structure on isolated muscle sarcolemma and identical in appearance to the pattern observed on teased fibers. (rupress.org)
  • A population of γ-actin filaments was stably associated with sarcolemma isolated from normal muscle and displayed a costameric pattern that precisely overlapped with dystrophin. (rupress.org)
  • However, costameric actin was absent from all sarcolemma isolated from dystrophin-deficient mdx mouse muscle even though it was localized to costameres in situ. (rupress.org)
  • Our data demonstrate that the dystrophin complex forms a mechanically strong link between the sarcolemma and the costameric cytoskeleton through interaction with γ-actin filaments. (rupress.org)
  • Dystrophin labelling in equatorial regions of normal intrafusal fibers, however, showed dystrophin-deficient segments alternating in a spiral fashion with positive-staining domains along the sarcolemma. (ubc.ca)
  • Dystrophin links the cytoskeleton to the sarcolemma through direct interaction with β-dystroglycan. (biomedcentral.com)
  • Dystrophin plays an important role in linking the cytoskeleton to the sarcolemma through the direct interactions of its N-terminus with F-actin and its C-terminus with β-dystroglycan [ 2 ]. (biomedcentral.com)
  • Studies and research have shown that the ability to skip certain exons in dystrophin pre-mRNA could circumvent these dystrophin gene errors and provide a potential treatment for DMD patients. (scienceblog.com)
  • 5-8] In this clinically suspected BMD case, we found exceptional deletion exons 3-44 of both actin-binding and the rod domain, which is approximately 50% deletion for targeted dystrophin gene containing 79 exons for translation fully functional dystrophin protein. (thefreedictionary.com)
  • In addition to these genetic dilated cardiomyopathies, some acquired dilated cardiomyopathy like viral dilated cardiomyopathy is also related to dystrophin disruption or aberrant cleavage. (biomedsearch.com)
  • In this review, we summarize the structure and distribution of dystrophin and researches of dystrophin in genetic and viral dilated cardiomyopathy. (biomedsearch.com)
  • This review gives an overview of the work carried out in cardiac troponin T and dystrophin to date in both human and animal dilated cardiomyopathy. (nottingham.ac.uk)
  • A dilated cardiomyopathy is common in patients with symptomatic Duchenne/Becker muscular dystrophy, a disease caused by dystrophin gene defects. (elsevier.com)
  • Moreover, we hypothesize that dystrophin play a critical role in ventricular remodeling in ischemic myocardium and treatment targeting restoration of dystrophin onto membrane could benefit for ischemic cardiomyopathy. (biomedsearch.com)
  • The absence of dystrophin leads to myofiber membrane fragility that results in the progressive muscular degeneration that characterizes DMD ( Sussman, 2002 ). (frontiersin.org)
  • Most of the dystrophin protein consists of a central domain made of 24 spectrin-like coiled-coil repeats (R). Using small angle neutron scattering (SANS) and the contrast variation technique, we specifically probed the structure of the three first consecutive repeats 1-3 (R1-3), a part of dystrophin known to physiologically interact with membrane lipids. (cea.fr)
  • Dystrophin maintains the integrity of striated muscles by linking the actin cytoskeleton with the cell membrane. (jci.org)
  • RESULTS: Dystrophin, α-syntrophin, and β-sarcoglycan in LV were delocalized from the membrane with aging, particularly in fibrotic areas, which was normalized by ET. (wku.edu)
  • These results lend further support to the suggested stabilizing role of dystrophin in the context of the membrane-cytoskeletal complex. (biologists.org)
  • Mechanical skinning of single-teased fibers revealed tighter mechanical connection of dystrophin to the plasma membrane than to the underlying internal domain of the muscle fiber. (rupress.org)
  • The results of this study suggest that dystrophin is not an integral part of the subsynaptic sensory-membrane in equatorial regions of normal intrafusal fibers, and, that the neurotrophic effect of sensory innervation is not the principle cause of this unique arrangement of dystrophin in equatorial regions. (ubc.ca)
  • The following antibody was used in this experiment: Dystrophin Polyclonal Antibody from Thermo Fisher Scientific, catalog # 12715-1-AP. (thermofisher.com)
  • Cultures containing dystrophic myoblasts were seeded in 8 well chambers and were targeted with a 72 hour recovery time after the addition of the either the nonspecific ODN (A) or mdx47NT (B). These cells were then allowed to differentiate for 96 hours at which point they were fixed and incubated with antibody specific for a rabbit polyclonal antibody that recognizes dystrophin and a secondary Alexa fluor labeled antibody (red). (nih.gov)
  • The entire assay was performed in microscope chambers so that the samples could be probed directly with an antibody specific for the dystrophin protein. (nih.gov)
  • Transduction efficiency was assessed by immuno-staining using an antibody (Manex1a) that recognizes the N-terminus of micro-dystrophin. (biomedcentral.com)
  • Spindles were serially-sectioned in transverse and longitudinal planes, and they were double-labelled with an antibody to dystrophin and with a 200 kD neurofilament protein antibody which revealed their sensory innervation. (ubc.ca)
  • Mouse IgG monoclonal antibody for Dystrophin, dystrophin (DMD) detection. (bosterbio.com)
  • Adeno-associated virus (AAV) mediated micro-dystrophin gene therapy brings the hope of ameliorating DMD. (ahajournals.org)
  • In summary, our results suggest that AAV-9 mediated micro-dystrophin gene therapy is a promising approach to treat DMD heart disease. (ahajournals.org)
  • These treatments use adeno-associated virus (AAV) to deliver an abbreviated version of the DMD gene, so-called mini- or micro-dystrophin gene, to muscle cells to produce a partial dystrophin protein. (pharmiweb.com)
  • Parts of the corrected dystrophin protein are clearly foreign because of the patient's DMD gene deletion, and so unwanted T cell immunity targeting the repaired muscle cells was a possibility. (nationwidechildrens.org)
  • The researchers did detect T cell immunity was against foreign segments of the corrected dystrophin protein in one patient with a large DMD gene deletion. (nationwidechildrens.org)
  • The amount of corrected dystrophin protein that is foreign should also be small, and possibly ignored altogether by the T cells. (nationwidechildrens.org)
  • Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene. (nih.gov)
  • Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. (hindawi.com)
  • Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. (nih.gov)
  • Defects in the dystrophin gene are the cause of Duchenne and Becker muscular dystrophies. (rcsb.org)
  • 1. Duchenne and Becker muscular dystrophies are X-linked disorders caused by defects in muscle dystrophin. (portlandpress.com)
  • α-Dystrobrevin associates with and is a homologue of dystrophin, the protein linked to Duchenne and Becker muscular dystrophies. (biologists.org)
  • A lack of the cytoskeletal protein dystrophin causes muscle fiber necrosis in Duchenne/Becker muscular dystrophies (DMD/BMD) and in murine X-linked muscular dystrophy (MDX). (biologists.org)
  • Also, I don't get why, if there was an immune response seen in two of the boys BEFORE treatment - possibly due to revertant fibres producing some dystrophin - why doesn't that happen in Becker cases where individuals produce even more dystrophin? (parentprojectmd.org)
  • a mutation that codes for a smaller amount of dystrophin or a modified molecule causes Becker dystrophy. (thefreedictionary.com)
  • In-frame dystrophin gene rearrangements typically result in the milder allelic disorder, Becker muscular dystrophy, clearly demonstrating that some regions of the dystrophin protein can be lost with relatively minor consequences. (edu.au)
  • Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. (semanticscholar.org)
  • In humans, the absence or abnormality of dystrophin leads to Duchenne or Becker muscular dystropy. (blogspot.com)
  • This approach should reduce the severity of DMD by allowing a dystrophic gene transcript to be modified, such that it can be translated into a Becker-dystrophin-like protein. (edu.au)
  • To determine whether dystrophin gene defects might account for a significant number of patients with apparently isolated idiopathic DCM, we performed dystrophin gene analysis in 27 DCM patients, who were ascertained as part of a prospective study on idiopathic DCM. (elsevier.com)
  • No dystrophin gene defects were found in our patients, whose average age was 50 years. (elsevier.com)
  • We are evaluating the potential of antisense oligonucleotides (AOs) to bypass defects in the dystrophin gene that preclude the synthesis of a functional protein. (edu.au)
  • Results from a Phase 1 proof-of-concept trial showed that injection of the drug into the muscles of a series of boys with DMD successfully induced dystrophin production in a dose-responsive manner. (scienceblog.com)
  • MF-2/dystrophin cDNA par- ticles were detected by FISH analysis in about 60-70% of myofiber nuclei in muscles of injected and contralateral limbs 7 days after application. (nature.com)
  • However, direct injection of AON into cardiac muscles showed effective dystrophin induction, suggesting that lower delivery efficiency is perhaps the most critical factor (Vitiello et al. (fitness-vip.com)
  • 2008). This is further supported by the restoration of dystrophin in cardiac muscles via AAV-mediated AON delivery (Denti et al. (fitness-vip.com)
  • Immunoblotting of dystrophin in DMD muscles reveals the total absence of dystrophin except in some revertant fibers. (thefreedictionary.com)
  • In Duchene muscular dystrophy, the muscles lack dystrophin, the protein needed for maintaining the integrity of muscle fibers. (stemcellsgroup.com)
  • The latter study showed that it is possible to correct the genetic error in the cells that no longer produce dystrophin protein, and inject corrected cells stimulating the regeneration of muscles. (stemcellsgroup.com)
  • Here, we have analyzed the role of dystrophin in injury-induced arterial neointima formation. (sigmaaldrich.com)
  • Recent studies suggest that dystrophin may contain unique domains that can help the heart better cope with the stress generated during contraction. (pharmiweb.com)
  • In this study, the researchers found that equal parts enzyme and guide RNA-targeted at a specific part of the DMD gene-didn't bump up the production of dystrophin very much. (the-scientist.com)
  • However, when the patients were evaluated three months later, long-term production of dystrophin protein from the corrected DMD gene was not detected. (nationwidechildrens.org)
  • Dystrophin is part of a protein complex that connects the cytoskeleton to the extracellular matrix. (frontiersin.org)
  • The Dystrophin protein provides a structural link between the muscle cytoskeleton and extracellular matrix to maintain muscle integrity. (jneurosci.org)
  • A gene on chromosome Xp21.2 that encodes dystrophin, a protein that anchors the extracellular matrix to the cytoskeleton via F-actin. (thefreedictionary.com)
  • The dystrophin complex is generally thought to link the actin-based cortical cytoskeleton and laminin-2 in the extracellular matrix ( Ervasti and Campbell 1993 ). (rupress.org)
  • Dystrophin is functionally similar to cytolinkers, as it links the multiple components of the cellular cytoskeleton to the transmembrane dystroglycan complex. (rupress.org)
  • The C-terminal region of dystrophin binds the cytoplasmic tail of beta-dystroglycan, in part through the interaction of its WW domain with a proline-rich motif in the tail of beta-dystroglycan. (rcsb.org)
  • Here we report the crystal structure of this portion of dystrophin in complex with the proline-rich binding site in beta-dystroglycan. (rcsb.org)
  • parallels the structural deficiencies observed in other cytolinker-deficient tissues, further demonstrating a close relationship between dystrophin and other cytolinkers. (rupress.org)
  • The dystrophin-deficient mdx mouse has historically been used as the primary model of DMD, although this mouse does not experience the severe, body-wide dystrophy that considerably shortens lifespan in humans. (scienceblog.com)
  • TLR7 activation led to myd88-dependent production of pro-inflammatory cytokines in dystrophin-deficient muscle cells, and cause significant degeneration/regeneration in vivo in mdx mouse muscle. (kennedykrieger.org)
  • Destabilization of costameric actin filaments may also be an important precursor to the costamere disarray observed in dystrophin-deficient muscle. (rupress.org)
  • Scientists have been using stem cells isolated from muscle tissue, bone marrow and blood vessels in lab animals to regenerate muscle fibers that are deficient in dystrophin[3] and results are encouraging. (stemcellsgroup.com)
  • Double-labelling for dystrophin and neurofilament protein showed that these dystrophin-deficient sites were subjacent to the annulospiral sensory-nerve wrappings terminating on the intrafusal fibers. (ubc.ca)
  • A large and complex gene on the X chromosome encodes dystrophin. (nih.gov)
  • Genetic information important for production of a functional dystrophin protein is deleted from the DMD gene of many patients. (nationwidechildrens.org)
  • Therapies to introduce functional dystrophin into dystrophic tissue through either cell or gene replacement have not been successful to date. (edu.au)
  • Flagship Biosciences' MuscleMap algorithm that supports therapeutic development for DMD, a fatal neuromuscular disease, has been validated to be as effective as manual pathology in the study, "Validation of a Muscle-Specific Tissue Image-Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies," published Aug. 31, 2018. (prweb.com)
  • Our results indicate that the postsynaptically localized scaffolding protein Dystrophin is required for appropriate control of neuromuscular synaptic homeostasis. (jneurosci.org)
  • Together, these data suggest that maintenance of the neuromuscular synapse is governed through its lateral association with the muscle cytoskeleton, and that dystrophin has a direct role in promoting the maturation of synaptic folds to allow more sodium channels into the junction. (pubmedcentralcanada.ca)
  • Skipping of exon 23 restored the reading frame of dystrophin mRNA and led to widespread continued translation of dystrophin protein. (scienceblog.com)
  • Like dystrophin, zebrafish γ-dystrobrevin mRNA is localised to myosepta. (biomedcentral.com)
  • We report an alternative approach where 2′-O-methyl antisense oligoribonucleotides have been used to modify processing of the dystrophin pre-mRNA in the mdx mouse model of DMD. (edu.au)
  • The capacity of AAV1, AAV6 or AAV8 to cross the vascular endothelial barrier carrying a micro-dystrophin cDNA was compared under identical conditions with delivery through a catheter placed in the femoral artery of the mdx mouse. (biomedcentral.com)
  • Genetic, biochemical and anatomical studies of dystrophin suggest that a number of distinct functions are subserved by its great structural diversity. (nih.gov)
  • Dystrophin abnormalities are thought to occur in 100% of patients with DMD/BMD, although genetic abnormalities may only be detected in up to 65% of cases. (thermofisher.com)
  • Scientists have discovered a new form of dystrophin, a protein critical to normal muscle function, and identified the genetic mechanism responsible for its production. (eurekalert.org)
  • A novel stress syndrome was characterized in pigs and the causative genetic factor most likely resides within DMD that results in less dystrophin protein and cardiac abnormalities that can lead to death under stressful conditions. (biomedcentral.com)
  • The secret: an ordinary virus with all its natural genetic material removed to make room for the dystrophin gene which triggers production of the protein. (umich.edu)
  • In this study, we aim to knockdown myostatin by means of exon skipping, a technique which has been successfully applied to reframe the genetic defect of dystrophin gene in DMD patients. (springer.com)
  • Subsequent clinical trials have shown that two different AON chemistries, either 2'- O -methyl phosphorothioate (2'OMePS)[ 12 ] or phosphorodiamidate morpholino oligomer (PMO)[ 13 ] targeting DMD exon 51 can restore local dystrophin synthesis in DMD patients with no to minimum side effect. (springer.com)
  • Here a model system has been developed to study dystrophin protein complex (DPC) assembly in living cells. (pitt.edu)
  • Stripping away genes normally found in the virus not only frees up enough space for a full-sized version of dystrophin, it also may make it possible to avoid triggering the body's immune system, according to Chamberlain. (umich.edu)
  • Furthermore, combination of myostatin and dystrophin AONs induced simultaneous skipping of both genes. (springer.com)
  • In this study, we will dissect the role(s) these domains play in the heart, and more importantly, we will develop next-generation micro-dystrophin genes to more effectively protect the heart. (pharmiweb.com)
  • The latest report Dystrophin (DMD) - Pipeline Review, H1 2018, outlays comprehensive information on the Dystrophin (DMD) targeted therapeutics, complete with analysis by indications, stage of development, mechanism of action (MoA), route of administration (RoA) and molecule type. (marketresearch.com)
  • The study, "Validation of a Muscle-Specific Tissue Image-Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies," was published in the Archives of Pathology & Laboratory Medicine on August 31, 2018. (prweb.com)
  • Independently, we will also request a meeting with the Agency to discuss the micro-dystrophin program with the goal of commencing a pivotal trial by year-end 2018. (firstwordpharma.com)
  • We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR) to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. (hindawi.com)
  • Platelet adhesion: structural and functional diversity of short dystrophin and utrophins in the formation of dystrophin-associated-protein complexes related to actin dynamics. (inserm.fr)
  • Formation of two dystrophin-associated protein complexes (Dp71d/Dp71delta110m approximately DAPC and Up400/Up71 approximately DAPC) was demonstrated by co-immunoprecipitation and their distribution in relation to the actin cytoskeleton was characterised during platelet adhesion. (inserm.fr)
  • We report that a minidystrophin gene construct, currently the most promising avenue for adeno-associated virus mediated gene therapy, properly assembles and integrates into the DPC in vivo, utilizing similar mechanisms as wild type dystrophin. (pitt.edu)