Dystrophin. Medical search

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

An autosomally-encoded 376-kDa cytoskeletal protein that is similar in structure and function to DYSTROPHIN. It is a ubiquitously-expressed protein that plays a role in anchoring the CYTOSKELETON to the PLASMA MEMBRANE.

A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.

A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.

A group of proteins that associate with DYSTROPHIN at the CELL MEMBRANE to form the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.

Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.

The excitable plasma membrane of a muscle cell. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)

A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.

A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.

A macromolecular complex of proteins that includes DYSTROPHIN and DYSTROPHIN-ASSOCIATED PROTEINS. It plays a structural role in the linking the CYTOSKELETON to the EXTRACELLULAR MATRIX.

Contractile tissue that produces movement in animals.

Synthetic analogs of NUCLEIC ACIDS composed of morpholine ring derivatives (MORPHOLINES) linked by phosphorodimidates. One standard DNA nucleic acid base (ADENINE; GUANINE; CYTOSINE; OR THYMINE) is bound to each morpholine ring.

The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.

Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.

Short fragments of RNA that are used to alter the function of target RNAs or DNAs to which they hybridize.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

A high molecular weight (220-250 kDa) water-soluble protein which can be extracted from erythrocyte ghosts in low ionic strength buffers. The protein contains no lipids or carbohydrates, is the predominant species of peripheral erythrocyte membrane proteins, and exists as a fibrous coating on the inner, cytoplasmic surface of the membrane.

Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.

A caveolin that is expressed exclusively in MUSCLE CELLS and is sufficient to form CAVEOLAE in SARCOLEMMA. Mutations in caveolin 3 are associated with multiple muscle diseases including DISTAL MYOPATHY and LIMB-GIRDLE MUSCULAR DYSTROPHY.

Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

A protein factor that regulates the length of R-actin. It is chemically similar, but immunochemically distinguishable from actin.

A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.

The three possible sequences of CODONS by which GENETIC TRANSLATION may occur from one nucleotide sequence. A segment of mRNA 5'AUCCGA3' could be translated as 5'AUC.. or 5'UCC.. or 5'CCG.., depending on the location of the START CODON.

Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.

Histochemical localization of immunoreactive substances using labeled antibodies as reagents.

Short fragments of DNA or RNA that are used to alter the function of target RNAs or DNAs to which they hybridize.

Processing of endogenous pre-mRNAs in association with SC-35 domains is gene specific. (1/1292)

Analysis of six endogenous pre-mRNAs demonstrates that localization at the periphery or within splicing factor-rich (SC-35) domains is not restricted to a few unusually abundant pre-mRNAs, but is apparently a more common paradigm of many protein-coding genes. Different genes are preferentially transcribed and their RNAs processed in different compartments relative to SC-35 domains. These differences do not simply correlate with the complexity, nuclear abundance, or position within overall nuclear space. The distribution of spliceosome assembly factor SC-35 did not simply mirror the distribution of individual pre-mRNAs, but rather suggested that individual domains contain both specific pre-mRNA(s) as well as excess splicing factors. This is consistent with a multifunctional compartment, to which some gene loci and their RNAs have access and others do not. Despite similar molar abundance in muscle fiber nuclei, nascent transcript "trees" of highly complex dystrophin RNA are cotranscriptionally spliced outside of SC-35 domains, whereas posttranscriptional "tracks" of more mature myosin heavy chain transcripts overlap domains. Further analyses supported that endogenous pre-mRNAs exhibit distinct structural organization that may reflect not only the expression and complexity of the gene, but also constraints of its chromosomal context and kinetics of its RNA metabolism. (+info)

Hindlimb immobilization applied to 21-day-old mdx mice prevents the occurrence of muscle degeneration. (2/1292)

Dystrophin-deficient skeletal muscles of mdx mice undergo their first rounds of degeneration-regeneration at the age of 14-28 days. This feature is thought to result from an increase in motor activity at weaning. In this study, we hypothesize that if the muscle is prevented from contracting, it will avoid the degenerative changes that normally occur. For this purpose, we developed a procedure of mechanical hindlimb immobilization in 3-wk-old mice to restrain soleus (Sol) and extensor digitorum longus (EDL) muscles in the stretched or shortened position. After a 14-day period of immobilization, the striking feature was the low percentage of regenerated (centronucleated) myofibers in Sol and EDL muscles, regardless of the length at which they were fixed, compared with those on the contralateral side (stretched Sol: 8.4 +/- 6.5 vs. 46.6 +/- 10.3%, P = 0.0008; shortened Sol: 1.2 +/- 1.6 vs. 50.4 +/- 16.4%, P = 0.0008; stretched EDL: 05 +/- 0.5 vs. 32.9 +/- 17.5%, P = 0. 002; shortened EDL: 3.3 +/- 3.1 vs. 34.7 +/- 11.1%, P = 0.002). Total numbers of myofibers did not change with immobilization. This study shows that limb immobilization prevents the occurrence of the first round of myofiber necrosis in mdx mice and suggests that muscle contractions play a role in the skeletal muscle degeneration of dystrophin-deficient mdx mouse muscles. (+info)

Increased calcium entry into dystrophin-deficient muscle fibres of MDX and ADR-MDX mice is reduced by ion channel blockers. (3/1292)

1. Single fibres were enzymatically isolated from interosseus muscles of dystrophic MDX mice, myotonic-dystrophic double mutant ADR-MDX mice and C57BL/10 controls. The fibres were kept in cell culture for up to 2 weeks for the study of Ca2+ homeostasis and sarcolemmal Ca2+ permeability. 2. Resting levels of intracellular free Ca2+, determined with the fluorescent Ca2+ indicator fura-2, were slightly higher in MDX (63 +/- 20 nM; means +/- s.d.; n = 454 analysed fibres) and ADR-MDX (65 +/- 12 nM; n = 87) fibres than in controls (51 +/- 20 nM; n = 265). 3. The amplitudes of electrically induced Ca2+ transients did not differ between MDX fibres and controls. Decay time constants of Ca2+ transients ranged between 10 and 55 ms in both genotypes. In 50 % of MDX fibres (n = 68), but in only 20 % of controls (n = 54), the decay time constants were > 35 ms. 4. Bath application of Mn2+ resulted in a progressive quench of fura-2 fluorescence emitted from the fibres. The quench rate was about 2 times higher in MDX fibres (3.98 +/- 1.9 % min-1; n = 275) than in controls (2.03 +/- 1.4 % min-1; n = 204). The quench rate in ADR-MDX fibres (2.49 +/- 1.4 % min-1; n = 87) was closer to that of controls. 5. The Mn2+ influx into MDX fibres was reduced to 10 % by Gd3+, to 19 % by La3+ and to 47 % by Ni2+ (all at 50 microM). Bath application of 50 microM amiloride inhibited the Mn2+ influx to 37 %. 6. We conclude that in isolated, resting MDX muscle fibres the membrane permeability for divalent cations is increased. The presumed additional influx of Ca2+ occurs through ion channels, but is well compensated for by effective cellular Ca2+ transport systems. The milder dystrophic phenotype of ADR-MDX mice is correlated with a smaller increase of their sarcolemmal Ca2+ permeability. (+info)

Characterization of dystrophin and utrophin diversity in the mouse. (4/1292)

Utrophin is a 400 kDa autosomal homolog of dystrophin and a component of the submembranous cytoskeleton. While multiple dystrophin isoforms have been identified along with alternatively spliced products, to date only two different mRNA species of utrophin have been identified. To determine the degree of evolutionary conservation between dystrophin and utrophin isoforms, we have compared their expression patterns in adult mice. Northern blot analysis of multiple adult tissues confirmed that only two major sizes of transcripts are produced from each gene: 13 and 5.5 kb from utrophin and 14 and 4.8 kb from dystrophin. However, western blot analysis detected several putative short utrophin isoforms that may be homologs of the dystrophin isoforms Dp140, Dp116 and Dp71. We also identified an alternatively spliced utrophin transcript that lacks the equivalent of the alternatively spliced dystrophin exon 71. Finally, we demonstrated that the C-terminal domain of utrophin targeted to neuromuscular junctions in normal mice, but localized to the sarcolemma efficiently only in the absence of dystrophin. Our results provide further evidence for a common evolutionary origin of the utrophin and dystrophin genes. (+info)

Ecto-ATPase activity of alpha-sarcoglycan (adhalin). (5/1292)

alpha-Sarcoglycan is a component of the sarcoglycan complex of dystrophin-associated proteins. Mutations of any of the sarcoglycan genes cause specific forms of muscular dystrophies, collectively termed sarcoglycanopathies. Importantly, a deficiency of any specific sarcoglycan affects the expression of the others. Thus, it appears that the lack of sarcoglycans deprives the muscle cell of an essential, yet unknown function. In the present study, we provide evidence for an ecto-ATPase activity of alpha-sarcoglycan. alpha-Sarcoglycan binds ATP in a Mg2+-dependent and Ca2+-independent manner. The binding is inhibited by 3'-O-(4-benzoyl)benzoyl ATP and ADP. Sequence analysis reveals the existence of a consensus site for nucleotide binding in the extracellular domain of the protein. An antibody against this sequence inhibits the binding of ATP. A dystrophin.dystrophin-associated protein preparation demonstrates a Mg-ATPase activity that is inhibited by the antibody but not by inhibitors of endo-ATPases. In addition, we demonstrate the presence in the sarcolemmal membrane of a P2X-type purinergic receptor. These data suggest that alpha-sarcoglycan may modulate the activity of P2X receptors by buffering the extracellular ATP concentration. The absence of alpha-sarcoglycan in sarcoglycanopathies leaves elevated the concentration of extracellular ATP and the persistent activation of P2X receptors, leading to intracellular Ca2+ overload and muscle fiber death. (+info)

Characterization of the transmembrane molecular architecture of the dystroglycan complex in schwann cells. (6/1292)

We have demonstrated previously 1) that the dystroglycan complex, but not the sarcoglycan complex, is expressed in peripheral nerve, and 2) that alpha-dystroglycan is an extracellular laminin-2-binding protein anchored to beta-dystroglycan in the Schwann cell membrane. In the present study, we investigated the transmembrane molecular architecture of the dystroglycan complex in Schwann cells. The cytoplasmic domain of beta-dystroglycan was co-localized with Dp116, the Schwann cell-specific isoform of dystrophin, in the abaxonal Schwann cell cytoplasm adjacent to the outer membrane. beta-dystroglycan bound to Dp116 mainly via the 15 C-terminal amino acids of its cytoplasmic domain, but these amino acids were not solely responsible for the interaction of these two proteins. Interestingly, the beta-dystroglycan-precipitating antibody precipitated only a small fraction of alpha-dystroglycan and did not precipitate laminin and Dp116 from the peripheral nerve extracts. Our results indicate 1) that Dp116 is a component of the submembranous cytoskeletal system that anchors the dystroglycan complex in Schwann cells, and 2) that the dystroglycan complex in Schwann cells is fragile compared with that in striated muscle cells. We propose that this fragility may be attributable to the absence of the sarcoglycan complex in Schwann cells. (+info)

Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice. (7/1292)

We used immunofluorescence techniques and confocal imaging to study the organization of the membrane skeleton of skeletal muscle fibers of mdx mice, which lack dystrophin. beta-Spectrin is normally found at the sarcolemma in costameres, a rectilinear array of longitudinal strands and elements overlying Z and M lines. However, in the skeletal muscle of mdx mice, beta-spectrin tends to be absent from the sarcolemma over M lines and the longitudinal strands may be disrupted or missing. Other proteins of the membrane and associated cytoskeleton, including syntrophin, beta-dystroglycan, vinculin, and Na,K-ATPase are also concentrated in costameres, in control myofibers, and mdx muscle. They also distribute into the same altered sarcolemmal arrays that contain beta-spectrin. Utrophin, which is expressed in mdx muscle, also codistributes with beta-spectrin at the mutant sarcolemma. By contrast, the distribution of structural and intracellular membrane proteins, including alpha-actinin, the Ca-ATPase and dihydropyridine receptors, is not affected, even at sites close to the sarcolemma. Our results suggest that in myofibers of the mdx mouse, the membrane- associated cytoskeleton, but not the nearby myoplasm, undergoes widespread coordinated changes in organization. These changes may contribute to the fragility of the sarcolemma of dystrophic muscle. (+info)

Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. (8/1292)

The dystrophin-glycoprotein complex (DGC) is a multisubunit complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. The proteins of the DGC are structurally organized into distinct subcomplexes, and genetic mutations in many individual components are manifested as muscular dystrophy. We recently identified a unique tetraspan-like dystrophin-associated protein, which we have named sarcospan (SPN) for its multiple sarcolemma spanning domains (Crosbie, R.H., J. Heighway, D.P. Venzke, J.C. Lee, and K.P. Campbell. 1997. J. Biol. Chem. 272:31221-31224). To probe molecular associations of SPN within the DGC, we investigated SPN expression in normal muscle as a baseline for comparison to SPN's expression in animal models of muscular dystrophy. We show that, in addition to its sarcolemma localization, SPN is enriched at the myotendinous junction (MTJ) and neuromuscular junction (NMJ), where it is a component of both the dystrophin- and utrophin-glycoprotein complexes. We demonstrate that SPN is preferentially associated with the sarcoglycan (SG) subcomplex, and this interaction is critical for stable localization of SPN to the sarcolemma, NMJ, and MTJ. Our experiments indicate that assembly of the SG subcomplex is a prerequisite for targeting SPN to the sarcolemma. In addition, the SG- SPN subcomplex functions to stabilize alpha-dystroglycan to the muscle plasma membrane. Taken together, our data provide important information about assembly and function of the SG-SPN subcomplex. (+info)

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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)
Duchenne's muscular dystrophy (DMD) is a fatal disease caused by mutations in the DMD gene that lead to quantitative and qualitative disturbances in dystrophin expression. (ox.ac.uk)
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)
Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. (umn.edu)

The dystrophin-associated protein complex is a multiprotein complex that includes dystrophin and the dystrophin-associated proteins. (wikipedia.org)
Dystrophin binds to actin of the cytoskeleton, and also to proteins in the extracellular matrix. (wikipedia.org)
The dystrophin-associated protein complex also contains dystrophin-associated proteins. (wikipedia.org)
The importance of dystrophin and its associated proteins in normal muscle function is now well established. (pnas.org)
Dystrophin and its associated proteins form a scaffold underneath the cardiomyocyte membrane and connect the intracellular cytoskeleton to the extracellular matrix. (biomedsearch.com)
It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. (curehunter.com)
Videos accompanying the online publication show visual evidence of pronounced curving of the spine and dramatically reduced mobility as a result of deficiency of both dystrophin and utrophin proteins (Hyperlink to: Mouse Pretreatment/Supplementary Video S1, http://www.avibio.com/videos03.php ). (scienceblog.com)
A macromolecular complex of proteins that includes DYSTROPHIN and DYSTROPHIN-ASSOCIATED PROTEINS. (curehunter.com)
Dystrophin and its partially redundant homolog Utrophin are associated with a number of other proteins, members of the Dystrophin-glycoprotein complex (DGC) ( Ervasti and Campbell, 1991 ). (jneurosci.org)
PURPOSE: To test the hypothesis that exercise training (ET) would alleviate age-related disruption of localization in DGC proteins (dystrophin, α-syntrophin, and β-sarcoglycan), and ET will upregulate decorin. (wku.edu)
Dystrophin localizes to the sarcolemma and stabilizes a complex of proteins (dystrophin-associated proteins, DAPs) that link the extracellular matrix to the actin cytoskeleton ( Ohlendieck, 1996 ). (biologists.org)
Several studies have shown that α-dystrobrevin can bind many of the same proteins that associate with dystrophin. (biologists.org)
an adapter protein that links signaling proteins to the dystrophin-dystrobrevin scaffold. (biologists.org)
Therefore, both dystrophin and dystrobrevin serve as scaffolds for a variety of signaling proteins. (biologists.org)
Dystrophin-less DMD and MDX myotubes were more susceptible to hypoosmotic shock than controls, as monitored by the uptake of external horseradish peroxidase and release of the soluble enzymes creatinine kinase or pyruvate kinase and of radiolabelled proteins. (biologists.org)
The present study was intended to identify all known members of the dystrophin superfamily and their associated proteins expressed in Müller glial cells (MGC). (arvojournals.org)
In morphologically preserved differentiated Müller cells, Dp71f was localized in clusters, utrophin was diffusely distributed in the cytoplasm, and dystrophin-associated proteins (DAPs) were membrane-bound. (arvojournals.org)
1 In the muscle, dystrophin is a submembranous cytoskeletal protein 2 that links actin 3 to a complex of dystrophin-associated proteins (DAPs) composed of transmembranous and submembranous proteins, such as dystroglycans, sarcoglycans, and syntrophins. (arvojournals.org)
Our results provide evidence for the role of the dystrophin central rod domain as a scaffold platform with a wide range of surface features and biophysical properties allowing it to interact with its various known partners such as proteins and membrane lipids. (inserm.fr)
Utrophin and dystrophins are minor actin-binding proteins present in muscle and non-muscle cytoskeleton. (inserm.fr)
Two new dystrophin isoforms were found, Dp71f and Dp71 d, as well as the Up71 isoform and the dystrophin-associated proteins, alpha and beta -dystrobrevins. (inserm.fr)
Distribution of Dp71d/Dp71delta110m, Up400/Up71 and dystrophin-associated proteins in relation to the actin cytoskeleton was evaluated by confocal microscopy in both resting and platelets adhered on glass. (inserm.fr)
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)
Of the numerous elements necessary for proper functioning of this synaptic contact, dystrophin proteins in the eye play an important role. (arvojournals.org)
Harnessing the potential of dystrophin-related proteins for ameliorating Duchenne's muscular dystrophy. (ox.ac.uk)
Dystrophin is a member of the spectrin superfamily of proteins. (ox.ac.uk)
Dystrophin itself is closely related to three proteins that constitute a family of dystrophin-related proteins (DRPs): the chromosome 6-encoded DRP or utrophin, the chromosome-X encoded, DRP2 and the chromosome-18 encoded, dystrobrevin. (ox.ac.uk)
These proteins share sequence similarity and functional motifs with dystrophin. (ox.ac.uk)
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)
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)
Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. (nih.gov)
Association of syncollin and desmin: Linking intermediate filament proteins to the dystrophin-associated protein complex. (ox.ac.uk)

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)
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)
In striated muscle, dystrophin transcripts are detectable from about 9 d in the heart and slightly later in skeletal muscle. (rupress.org)
However, there is an important difference between the two types of muscle: the heart is already functional as a contractile organ before the appearance of dystrophin transcripts, whereas this is not the case in skeletal muscle, where dystrophin and myosin heavy chain transcripts are first detectable at the same time. (rupress.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)
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)
We examined aspects of collagen cross-linking in dystrophin-deficient murine, canine, and human skeletal muscle. (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)

In the brain, β-dystrobrevin coimmunoprecipitates with the dystrophin isoforms Dp71 and Dp140. (pnas.org)
However, there are several other tissue specific isoforms of dystrophin, some exclusively or predominantly expressed in the brain or the retina. (nih.gov)
To gain more insights into the role of dystrophin in this cognitive phenotype, we performed a comprehensive analysis of the expression patterns of dystrophin isoforms across human brain development, using unique transcriptomic data from Allen Human Brain and BrainSpan atlases. (nature.com)
Dystrophin isoforms show large changes in expression through life with pronounced differences between the foetal and adult human brain. (nature.com)
The expression of dystrophin isoforms was significantly associated with genes implicated in neurodevelopmental disorders, like autism spectrum disorders or attention-deficit hyper-activity disorders, which are known to be associated to DMD. (nature.com)
Our results point to the crucial role of several dystrophin isoforms in the development and function of the human brain. (nature.com)
To further our understanding of this aspect of the function of dystrophin , we have generated Drosophila mutants that lack the large dystrophin isoforms and analyzed their role in synapse function at the neuromuscular junction. (jneurosci.org)
In expression and rescue studies, we show that lack of the large dystrophin isoforms in the postsynaptic muscle cell leads to elevated evoked neurotransmitter release from the presynaptic apparatus. (jneurosci.org)
Absence of the large dystrophin isoforms does not lead to changes in muscle cell morphology or alterations in the postsynaptic electrical response to spontaneously released neurotransmitter. (jneurosci.org)
Expression of the shorter dystrophin-EGFP isoforms Dp71 in the brain, Dp260 in the retina, and Dp116 in the peripheral nerve remained unabated by the mdx-23 mutation. (unboundmedicine.com)
The huge size of the dystrophin gene, its complex expression patterns and expression of the predominant isoforms in non-dividing cells, have hindered gene replacement therapies for DMD, but render the dystrophin gene product an ideal candidate to evaluate AO therapies directed at splicing intervention. (edu.au)
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)
The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). (nih.gov)

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)
Computational study of the human dystrophin repeats: interaction properties and molecular dynamics. (inserm.fr)

We investigated NMJs of a series of mdx-XistΔhs mice, which expressed dystrophin between ~2% and 19% of normal. (mendeley.com)
On the other hand, mdx+/- mice (expressing ~50% dystrophin) showed normal NMJ features. (mendeley.com)
When they used 10 times more guide RNA than Cas9, they found that mice were able to reach roughly 90 percent of the normal dystrophin protein expression in their muscles and hearts four weeks after gene editing. (the-scientist.com)
Increased neointimal thickening in dystrophin-deficient mdx mice. (sigmaaldrich.com)
In contrast, dystrophin-deficient mdx mice appear physically normal despite their underlying muscle pathology. (nih.gov)
We describe mice deficient for both dystrophin and the dystrophin-related protein utrophin. (nih.gov)
Using tissue-based cosedimentation assays on mice expressing endogenous dystrophin or truncated transgene products, we find that constructs harboring spectrinlike repeat 24 through the first third of the WW domain cosediment with MTs. (rupress.org)
Furthermore, FKRP sedimentation shifts with dystroglycan in disease models involving the dystrophin-glycoprotein complex, and sarcolemmal FKRP immunofluorescence mirrors that of dystroglycan in muscular dystrophy mice, suggesting that FKRP localization may be mediated by dystroglycan. (biomedsearch.com)
Oxford, United Kingdom & Bothell, WA, USA - October 20, 2009 - An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan. (scienceblog.com)
The paper "Prevention of Dystrophic Pathology in Severely Affected Dystrophin/Utrophin-deficient Mice by Morpholino-oligomer-mediated Exon-skipping" details the successful exon skipping and treatment of utrophin/dystrophin double knockout (dKO) mice with a cell-penetrating peptide-conjugated phosphorodiamidate morpholino oligomers (PPMO) targeting exon 23 in dystrophin pre-mRNA. (scienceblog.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)
Dystrophin-deficient mdx mice exhibit a cardiac phenotype similar to human DMD patients albeit at a delayed progression (Bostick et al 2008 Cir Res102:121-130). (ahajournals.org)
In this study, we delivered an AAV-9 micro-dystrophin vector to mdx mice at both the pre-clinical and symptomatic stages of disease (1-5 x 10 12 viral particles per mouse). (ahajournals.org)
U-M scientists have developed a viral vector that delivers the gene for dystrophin, a protein critical for normal maintenance of muscle tissue, to the muscles of adult mice with muscular dystrophy. (umich.edu)
The result: dystrophic mice with muscles producing high levels of normal dystrophin protein for several months. (umich.edu)
We have induced long-term expression of the full-sized dystrophin protein for at least three months in the muscles of adult mice with Duchenne muscular dystrophy," says Jeffrey S. Chamberlain, associate professor of human genetics. (umich.edu)
Now that we have succeeded at pr oducing long-term expression of dystrophin in adult mice without a working immune system, the next step is to test the virus in mice with a normal immune response. (umich.edu)
If our adenoviral vector is able to produce this same level of dystrophin expression in immunologically normal mice, then we may be in a position to begin limited clinical trials for safety in humans. (umich.edu)
Intravital microscopy in anaesthetized mice allowed live-imaging of sarcolemmal dystrophin-EGFP fusion protein of revertant fibres as well as following therapeutic restoration. (unboundmedicine.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)
We used a transgenic approach to restore α-dystrobrevin to the sarcolemma in mice that lack dystrophin (mdx mice) to study two interrelated functions: (1) the ability of α-dystrobrevin to rescue components of the dystrophin complex in the absence of dystrophin and (2) the ability of sarcolemmal α-dystrobrevin to ameliorate the dystrophic phenotype. (biologists.org)
The mdx5cv mouse is a model of DMD in which a point mutation in exon 10 of the dystrophin gene creates an artificial splice site.Using primary myoblasts from mdx5cv mice, single-stranded DNA oligonucleotides were designed to correct this DNA mutation.Exogenous manipulations, such as RNAi, are certainly feasible and possibly required to increase the successful application of gene repair in some primary or progenitor muscle cells. (nih.gov)
The donor splice site in the DMD gene in mdx5cv mice causes a frameshift which results in a translation of truncated dystrophin protein (10 of the 79 exons). (nih.gov)
Cy3) correct the dystrophin gene in cultures containing an enriched population of myoblasts isolated from dystrophic mice. (nih.gov)
Pip5 transduction peptides direct high efficiency oligonucleotide-mediated dystrophin exon skipping in heart and phenotypic correction in mdx mice. (surrey.ac.uk)
Antisense oligonucleotide (AO)-mediated exon skipping has been shown to restore functional dystrophin in mdx mice and DMD patients treated intramuscularly in two recent phase 1 clinical trials. (surrey.ac.uk)
Intramuscular administration of the morpholino to juvenile mice reduced central nucleation and resulted in near-normal dystrophin expression and muscle architecture. (edu.au)
We show that EDL muscles from dystrophin-deficient mdx mice recover 65% of lost force within 120 min of eccentric contraction and exhibit minimal force loss when the interval between contractions is increased from 3 to 30 min. (umn.edu)
We have recently reported that cell-penetrating peptides (CPPs) and novel chimeric peptides containing CPP (referred as B peptide) and muscle-targeting peptide (referred as MSP) motifs significantly improve the systemic exon-skipping activity of morpholino phosphorodiamidate oligomers (PMOs) in dystrophin-deficient mdx mice. (ox.ac.uk)
Muscle spindles in the soleus of 32-week-old normal and age-matched mdx mice were examined by immunocytochemical methods to determine the localization of dystrophin in polar and equatorial regions of the intrafusal fibers. (ubc.ca)
By fluorescence microscopy, intrafusal fibers in the soleus of mdx mice were deficient in dystrophin throughout their lengths, whereas their sensory nerve-terminals stained intensely with the nerve-specific antibody and appeared unaltered in dystrophy. (ubc.ca)
Additionally, it was found that chronic denervation of muscle spindles in normal mice did not affect the expression of dystrophin either at these sites or at the non-sensory regions of the sarcolemma. (ubc.ca)
Robust statistical models were built for extracts and intact cardiac tissue, distinguishing mice according to expression of dystrophin. (ox.ac.uk)

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)

The exact function of dystrophin remains to be determined. (pnas.org)
However, no overt disease symptoms are observed in dystrophin-less cultured myotubes, and the biological function of dystrophin in normal muscle cells is still unknown. (biologists.org)
One key to further understanding of the cellular function of dystrophin would be extended knowledge about its subcellular organization. (rupress.org)

These results show that dystrophin deficiency stimulates neointima formation and suggest that expression of dystrophin in vascular smooth muscle cells may protect the artery wall against injury-induced intimal thickening. (sigmaaldrich.com)
Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder, which is caused by dystrophin deficiency in muscle fibers. (springer.com)
Deficiency of muscle dystrophin causes Duchenne muscular dystrophy (DMD), an X-linked disease that affects muscle function and leads to decreased life expectancy. (arvojournals.org)
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)

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)

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)
Current experimental therapeutic approaches in Duchenne muscular dystrophy aim to restore dystrophin expression. (mendeley.com)
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)
To this end, we have characterized the clinical phenotype of 17 patients with Becker muscular dystrophy harbouring in-frame deletions relevant to on-going or planned exon skipping clinical trials for Duchenne muscular dystrophy and correlated it to the levels of dystrophin, and dystrophin-associated protein expression. (nih.gov)
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)
This is the first quantitative study on both dystrophin and dystrophin-associated protein expression in patients with Becker muscular dystrophy with deletions relevant for on-going exon skipping trials in Duchenne 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)
We are very pleased to report successful delivery of the micro-dystrophin transgene to the nuclei - corresponding to robust gene expression and proper localization of micro-dystrophin," said Jerry Mendell, MD, the study's co-author and principal investigator with the Center for Gene Therapy in the Abigail Wexner Research Institute at Nationwide Children's Hospital. (eurekalert.org)
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)
Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. (physiciansweekly.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)
The abnormal retinal electrophysiology observed in patients with Duchenne muscular dystrophy (DMD) has been attributed to an altered expression of C-terminal products of the dystrophin gene. (arvojournals.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 spatial and temporal expression of the dystrophin gene has been examined during mouse embryogenesis, using in situ hybridization on tissue sections with a probe from the 5' end of the dystrophin coding sequence. (rupress.org)
Currently, a promising avenue of research consists of identifying molecules that would increase the expression of utrophin and the delivery of these molecules to dystrophin-deficient tissues as a means of DMD therapy. (ox.ac.uk)
The 2OMeAO was able to restore dystrophin expression in vitro and in vivo when complexed with delivery agents. (edu.au)
Metabolic profiles of dystrophin and utrophin expression in mouse models of Duchenne muscular dystrophy. (ox.ac.uk)
Using metabolic profiles of diaphragm, models were built describing dystrophin and utrophin, a dystrophin related protein, expression. (ox.ac.uk)

In the epithelia of the kidney, dystrophin may be replaced with utrophin. (wikipedia.org)
The data suggest that utrophin and dystrophin have complementing roles in normal functional or developmental pathways in muscle. (nih.gov)
An alternative strategy for DMD therapy, that circumvents many of these problems, has arisen from the demonstration that the DRP utrophin can functionally substitute for the missing dystrophin and its overexpression can rescue dystrophin-deficient muscle. (ox.ac.uk)

In the mdx mouse, dystrophin absence not only causes muscle damage but also mild synaptic dysfunctions and clear morphological aberrations at NMJs. (mendeley.com)
The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease that is inevitably fatal in early adulthood. (nih.gov)
The absence of dystrophin leads to myofiber membrane fragility that results in the progressive muscular degeneration that characterizes DMD ( Sussman, 2002 ). (frontiersin.org)
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)
Short-term synaptic facilitation of evoked transmitter release is decreased in the mutants, suggesting that the absence of dystrophin results in increased probability of release. (jneurosci.org)
The absence of dystrophin in the heart contributes to a progressive deterioration of cardiac muscle and eventual cardiomyopathy. (pharmiweb.com)
Duchenne muscular dystrophy (DMD) is a severe and lethal X-linked myodegenerative disease caused by the absence of the DMD gene product called dystrophin. (arvojournals.org)
However, in the absence of any high-resolution structure of these repeats, the molecular basis of dystrophin central domain's functions has not yet been deciphered. (inserm.fr)
Immunoblotting of dystrophin in DMD muscles reveals the total absence of dystrophin except in some revertant fibers. (thefreedictionary.com)
(Click on image to enlarge) Considerable efforts are underway to develop drugs and biologics (cell and gene therapy) to address the primary problem in Duchenne-the absence of dystrophin. (stemcellsgroup.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)

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)
Little is known about the localization of α-dystrobrevin-3, a short isoform that lacks the dystrophin and syntrophin interaction sites. (biologists.org)
Localization of dystrophin gene transcripts during mouse embryogenesis. (rupress.org)

This approach aims to transform the Duchenne muscular dystrophy phenotype to that of the milder disorder, Becker muscular dystrophy, typically caused by in-frame dystrophin deletions that allow the production of an internally deleted but partially functional dystrophin. (nih.gov)
Taken together, our results indicate that all varieties of internally deleted dystrophin assessed in this study have the functional capability to provide a substantial clinical benefit to patients with Duchenne muscular dystrophy. (nih.gov)
shows structural and functional similarities to cytolinkers, which suggests the hypothesis that dystrophin performs a cytolinker role in muscle. (rupress.org)
Researchers from Nationwide Children's Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy (DMD) - and initial findings suggest that the therapy can provide functional improvement that is greater than that observed under the standard of care. (eurekalert.org)
Genetic information important for production of a functional dystrophin protein is deleted from the DMD gene of many patients. (nationwidechildrens.org)
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)
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)
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)

A dystrophin-associated protein is a protein that helps to form the connection between intracellular dystrophin and the extracellular basal lamina. (wikipedia.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)

sarcoglycan, gamma (35kDa dystrophin. (wikigenes.org)
SGCG encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. (antikoerper-online.de)
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)

This phase I randomized double blind dose escalation study investigates the safety and efficacy of the mini-dystrophin gene transferred to the biceps muscle for Duchenne muscular dystrophy patients, ages 5 to 12 years of age, using a recombinant adeno-associated virus. (clinicaltrials.gov)
The mini-dystrophin gene or a placebo agent (normal saline or empty viral capsids) are injected directly into both biceps muscles while under conscious sedation. (clinicaltrials.gov)
This region, termed the heart domain, will be incorporated into a modified mini-dystrophin gene. (pharmiweb.com)
This CT domain will be combined with a mini-dystrophin gene and evaluated for its ability to protect cardiac function in a pre-clinical model. (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)
Furthermore, grouping the patients by deletion, patients with Becker muscular dystrophy with deletions with an end-point of exon 51 (the skipping of which could rescue the largest group of Duchenne muscular dystrophy deletions) showed significantly higher dystrophin levels (P = 0.034) than those with deletions ending with exon 53. (nih.gov)
Control, Duchenne muscular dystrophy and Becker muscular dystrophy transverse muscle sections were immunolabelled for β-spectrin and with MANDYS106 (exon 43) and Dys2 (C-terminal, last 17 amino acids) antibodies against dystrophin. (nih.gov)
Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. (curehunter.com)
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)
This new integrative view is strongly supported by the previous experimental works that investigated the isolated domains and the observed heterogeneity of the severity of dystrophin related pathologies, especially Becker muscular dystrophy. (inserm.fr)
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)

Purified Dp260, a truncated isoform of dystrophin, bound MTs with a K d of 0.66 µM, a stoichiometry of 1 Dp260/1.4 tubulin heterodimer at saturation, and stabilizes MTs from cold-induced depolymerization. (rupress.org)
In this study, we investigate the role of the postsynaptically localized dystrophin-like protein 2 (DLP2) Dystrophin isoform at the Drosophila NMJ. (jneurosci.org)

Aquaporin 4 may be connected to the dystrophin-associated protein complex. (wikipedia.org)
The dystrophin-associated protein complex is important for cell structure and cell signalling. (wikipedia.org)
Many forms of muscular dystrophy are associated with disorders of the dystrophin-associated protein complex. (wikipedia.org)
Costamere Dystrophin-Associated+Protein+Complex at the US National Library of Medicine Medical Subject Headings (MeSH) Welling, Paul A. (2008-01-01), Alpern, ROBERT J. (wikipedia.org)
These data provide evidence that the composition of the dystrophin-associated protein complex in the brain differs from that in muscle. (pnas.org)
Here a model system has been developed to study dystrophin protein complex (DPC) assembly in living cells. (pitt.edu)

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 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)

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)

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)

At 12 weeks post-infusion, gastrocnemius muscle biopsy specimens showed a mean of 81.2% of muscle fibers expressing micro-dystrophin, with a mean intensity of 96% at the sarcolemma. (eurekalert.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)
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)
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)
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)

Dp71 is the most prominent dystrophin gene product in the adult brain. (biologists.org)

Here, we have analyzed the role of dystrophin in injury-induced arterial neointima formation. (sigmaaldrich.com)
These results lend further support to the suggested stabilizing role of dystrophin in the context of the membrane-cytoskeletal complex. (biologists.org)

Recent studies suggest that dystrophin may contain unique domains that can help the heart better cope with the stress generated during contraction. (pharmiweb.com)
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)

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)
The researchers also used CRISPR gene-editing techniques to restore production of dystrophin in human heart cells affected by Duchenne muscular dystrophy. (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)

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)

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)
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)
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)

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)
Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. (nih.gov)
This first generation PMO drug candidate is designed to skip exon 51 of the dystrophin gene, allowing for restoration of the reading frame in the dystrophin mRNA sequence. (scienceblog.com)
T nonsense mutation in Dmd exon 23, is a mouse model for Duchenne muscular dystrophy (DMD), frequently used to test therapies aimed at dystrophin restoration. (unboundmedicine.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)
As shown above, correction of the mutation at the DNA level resulted in the restoration of intact dystrophin message. (nih.gov)
Immunohistochemical staining, RT-PCR and western blot results indicated that B-9-PMO induced significantly higher level of exon skipping and dystrophin restoration than its counterpart (9-B-PMO), further corroborating the notion that the activity of chimeric peptide-PMO conjugates is dependent on relative position of the tissue-targeting peptide motif within the chimeric peptide with respect to PMOs. (ox.ac.uk)

In Duchene muscular dystrophy, the muscles lack dystrophin, the protein needed for maintaining the integrity of muscle fibers. (stemcellsgroup.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)

A large and complex gene on the X chromosome encodes dystrophin. (nih.gov)

An immune reaction to dystrophin, the muscle protein that is defective in patients with Duchenne muscular dystrophy, may pose a new challenge to strengthening muscles of patients with this disease, suggests a new study appearing in the October 7, 2010, issue of The New England Journal of Medicine . (nationwidechildrens.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)
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)

In smooth muscle dystrophin transcripts are first detectable from 11 d post coitum in blood vessels, and subsequently in lung bronchi and in the digestive tract. (rupress.org)

P eople with Duchenne muscular dystrophy carry a mutation in the DMD gene coding for dystrophin, a protein crucial for proper muscle function. (the-scientist.com)
It is caused by a mutation in the gene that encodes for dystrophin, and symptoms usually appear in infants and toddlers. (eurekalert.org)
This mutation should have made natural production of functioning dystrophin impossible, resulting in severe disease. (eurekalert.org)
Eligible participants must have a known dystrophin gene mutation and may be concurrently treated with corticoid steroids. (clinicaltrials.gov)
The mdx5cv mouse is a model of DMD in which a point mutation in exon 10 of the dystrophin gene creates an artificial splice site. (nih.gov)
Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. (semanticscholar.org)

Duchenne muscular dystrophy is a severe X chromosome-linked, muscle-wasting disease caused by lack of the protein dystrophin. (pnas.org)
Dystrophin is the 427kDa protein product of the DMB/BMD gene located on the X chromosome at position Xp21. (thermofisher.com)
The DMD gene spans 2.4 million base pairs of genomic DNA on the X chromosome and its 14 kb transcript encodes a full-length protein (dystrophin) of 427 kiloDaltons. (biomedcentral.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)

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)
HACKENSACK, N.J., Jan. 24, 2019 /PRNewswire/ -- Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), awarded the University of Missouri School of Medicine a grant for $105,000 to continue development of a minimized dystrophin gene aimed at protecting cardiac function in people with Duchenne. (pharmiweb.com)
Cardiac troponin T and dystrophin were observed to be associated with both human and turkey (troponin T) and canine (dystrophin) dilated cardiomyopathies. (nottingham.ac.uk)

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)
Additionally, we will address the techniques used for anatomical, biochemical and physiological evaluation of the potential benefits of this and other forms of DMD therapy in dystrophin-deficient animal models. (ox.ac.uk)
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)
Barton, Elisabeth R. / Increased collagen cross-linking is a signature of dystrophin-deficient muscle . (elsevier.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)
Kamdar, F & Garry, DJ 2016, ' Dystrophin-Deficient Cardiomyopathy ', Journal of the American College of Cardiology , vol. 67, no. 21, pp. 2533-2546. (umn.edu)

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)

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)
Duchenne muscular dystrophy (DMD) is a rare, progressive, and fatal neuromuscular disease caused by dystrophin protein loss in muscle. (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)

The dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), encodes a large cytoskeletal protein present in muscle fibers. (sigmaaldrich.com)

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)

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)

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)

In all, 75% of the dystrophin molecule consists of a large central rod domain made up of 24 repeat units that share high structural homology with spectrin-like repeats. (inserm.fr)

We found dystrophin gene deletions in 37 cases. (hindawi.com)

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Processing of endogenous pre-mRNAs in association with SC-35 domains is gene specific. (1/1292)

Hindlimb immobilization applied to 21-day-old mdx mice prevents the occurrence of muscle degeneration. (2/1292)

Increased calcium entry into dystrophin-deficient muscle fibres of MDX and ADR-MDX mice is reduced by ion channel blockers. (3/1292)

Characterization of dystrophin and utrophin diversity in the mouse. (4/1292)

Ecto-ATPase activity of alpha-sarcoglycan (adhalin). (5/1292)

Characterization of the transmembrane molecular architecture of the dystroglycan complex in schwann cells. (6/1292)

Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice. (7/1292)

Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. (8/1292)

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Dystrophin

Muscular Dystrophy, Duchenne

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Muscular Dystrophy, Animal

Muscular Dystrophies

Dystrophin-Associated Proteins

Dystroglycans

Sarcolemma

Sarcoglycans

Muscle, Skeletal

Exons

Cytoskeletal Proteins

Dystrophin-Associated Protein Complex

Muscles

Morpholinos

Muscle Proteins

Muscle Fibers, Skeletal

Oligoribonucleotides, Antisense

Molecular Sequence Data

Spectrin

Genetic Therapy

Caveolin 3

Mice, Inbred C57BL

Membrane Proteins

Actinin

Cardiomyopathy, Dilated

Reading Frames

Fluorescent Antibody Technique

Immunohistochemistry

Oligonucleotides, Antisense

Processing of endogenous pre-mRNAs in association with SC-35 domains is gene specific. (1/1292)

Hindlimb immobilization applied to 21-day-old mdx mice prevents the occurrence of muscle degeneration. (2/1292)

Increased calcium entry into dystrophin-deficient muscle fibres of MDX and ADR-MDX mice is reduced by ion channel blockers. (3/1292)

Characterization of dystrophin and utrophin diversity in the mouse. (4/1292)

Ecto-ATPase activity of alpha-sarcoglycan (adhalin). (5/1292)

Characterization of the transmembrane molecular architecture of the dystroglycan complex in schwann cells. (6/1292)

Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice. (7/1292)

Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. (8/1292)

A fusion peptide directs enhanced systemic dystrophin exon skipping and functional restoration in dystrophin-deficient mdx mice...

Direct visualization of the dystrophin network on skeletal muscle fiber membrane. | Journal of Cell Biology | Rockefeller...

Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse | Read by QxMD

Exonics Therapeutics Announces Publication of Research Demonstrating Gene Repair Technology Corrected Dystrophin Expression in...

Function and genetics of dystrophin and dystrophin-related proteins in muscle. - Oxford Neuroscience

Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice | Skeletal Muscle | Full Text

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy | Journal...

Diagnostic strategy for the detection of dystrophin gene mutations in Asian patients and carriers using immortalized cell lines...

Local and distant transfection of mdx muscle fibers with dystrophin and LacZ genes delivered in vivo by synthetic microspheres ...

U-Ms gutted virus delivers dystrophin to muscles of adult mice with muscular dystrophy

Dystrophin is a component of the subsynaptic membrane. | JCB

Repositorio da Producao Cientifica e Intelectual da Unicamp: Bone Tissue And Muscle Dystrophin Deficiency In Mdx Mice

Pip5 transduction peptides direct high efficiency oligonucleotide-mediated dystrophin exon skipping in heart and phenotypic...

Abstract 3808: AAV-9 Micro-Dystrophin Gene Therapy Halts Heart Disease Progression in Symptomatic Dystrophic Mice | Circulation

T.P.2.03 Characterisation of a complex dystrophin mutation: Assume nothing when designing exon skipping strategies - Murdoch...

The subcellular distribution of chromosome 6-encoded dystrophin-related protein in the brain. | JCB

Brain dystrophin, neurogenetics and mental retardation<...

Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells | PNAS

BioNews - Molecular scalpel repairs defective muscular dystrophy DNA

Cardiac Protection after Systemic Transplant of Dystrophin Expressing Chimeric (DEC) Cells to the mdx Mouse Model of Duchenne...

multiplex PCR - oi

AVV9-minidystrophin (Pfizer- PF-06939926) for Duchenne Muscular Dystrophy: Clinical Study Update

Anti-Dystrophin Antibody (Monoclonal, MANDYS8)

In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular...

dystrophin protein

Muscling out gene mutations | Science Translational Medicine

Exon Skipping and Dystrophin Induction in Cardiac Muscle - Muscular Dystrophy

Ramipril Versus Carvedilol in Duchenne and Becker Patients - Full Text View - ClinicalTrials.gov

Disease Markers - Volume 25, issue 2 - Journals - IOS Press

Monoclonal antibodies for dystrophin analysis: epitope mapping and improved binding to SDS treated muscle sections at eagle-i...

Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination.

Sarepta eyes FDA filing for DMD drug golodirsen after positive trial - PMLiVE

Study of Ataluren for Previously Treated Patients With nmDBMD in the US - Full Text View - ClinicalTrials.gov

Dmdmdx/Largemyd: a new mouse model of neuromuscular diseases useful for studying physiopathological mechanisms and testing...

Search the database for deliberate release of GM medicinal products | Belgian Biosafety Server

IG1 04 Fig16

Intramuscular Transplantation of Muscle Precursor Cells over-expressing MMP-9 improves Transplantation Success - PLOS Currents...

Summary and Future Direction - Muscular Dystrophy - Fitness VIP

ZFIN Publication: Bolaños-Jiménez et al., 2001

New cures for hereditary diseases around the corner? - BioVox

Paul Gregorevic | Quest Magazine Online