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Topic: Dystrophin

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Duchenne muscular dystrophy

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	Dystrophin
		Duchenne (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin (dys) gene.
		The requirement for dystrophin is haplo-insufficient, indicating that the Drosophila NMJ is highly sensitive to the levels of Dystrophin, possibly reflecting its interaction with rate-limiting signaling factors (van der Plas, 2006).
		Dystrophin and CaMKII are unlikely, however, to signal through the PMad-dependent BMP signaling pathway, because the expression levels and domains of PMad are unchanged when Dystrophin or CaMKII levels are either decreased or increased.
	www.sdbonline.org /fly/cytoskel/dystrophin1.htm (5206 words)

	BioMed Central \| Full text \| The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms
		Dystrophin, identified nearly 20 years ago as the protein deficient in Duchenne muscular dystrophy (DMD)[1], is now recognised as the founder member of a protein superfamily with representatives throughout the animal kingdom[2].
		Dystrophin, utrophin and DRP2 together constitute the vertebrate members of the dystrophin branch of the superfamily; although their function is not well understood, they each (via their signature C-terminal domains) form the core of a membrane-bound complex comprising dystroglycan, sarcoglycans and syntrophins, known as the dystrophin-glycoprotein complex (DGC) [5].
		Dp260 is an isoform encoded by exons 30–79 of the mammalian dystrophin gene.
	www.biomedcentral.com /1471-2164/8/19 (9285 words)

	Dissociation of Sarcoglycans and the Dystrophin Carboxyl Terminus From the Sarcolemma in Enteroviral Cardiomyopathy -- ...
		Dissociation of Sarcoglycans and the Dystrophin Carboxyl Terminus From the Sarcolemma in Enteroviral Cardiomyopathy
		dystrophin fragment and of the sarcoglycans from the sarcolemma
		dystrophin mutations are a cause of X-linked dilated cardiomyopathy.
	circres.ahajournals.org /cgi/content/full/87/6/489 (3847 words)

	BioMed Central \| Full text \| Brain dystrophin-glycoprotein complex: Persistent expression of beta-dystroglycan, ...
		That the other members of the dystrophin -glycoprotein complex, besides dystrophin, play a role in the DMD pathology, is demonstrated by the fact that primary abnormalities in sarcoglycans and laminin are responsible for certain forms of limb-girdle muscular dystrophy and congenital muscular dystrophy, respectively [5, 22].
		Since dystrophin does not exist in isolation at the cell surface but forms tightly associated multimeric complexes [3], it was of interest to determine the oligomeric status of the major brain isoform Dp71 in normal and dystrophic mice.
		Dystrophin isoforms of varying length, dystrobrevin and β-dystroglycan appear to be enriched around blood vessels in astrocytic endfeet in the cerebellum and at blood-ocular barrier sites in the retina [51,52,53,54].
	www.biomedcentral.com /1471-2121/2/2 (6098 words)

	Detection of non-deletion dystrophin mutations: A comparison of single-strand conformation analysis and direct ...
		The dystrophin gene is the largest gene identified to date and spans some 2.4 million bases.
		Dystrophin deletions are easily detected with the use of multiplex PCR.
		An analysis of all dystrophin mutations is presented.
	escholarship.bc.edu /dissertations/AAI9961599 (214 words)

	Identification of alpha-Syntrophin Binding to Syntrophin Triplet, Dystrophin, and Utrophin -- Yang et al. 270 (10): ...
		Dystrophin, utrophin, 87-kDa postsynaptic dystrophin homologous protein, and DP71 were able to be immunoprecipitated by an anti-syntrophin antibody(17).
		The non-muscle 71-kDa dystrophin isoform corresponding to the sequence of DP71 was constructed as described elsewhere(21).
		This is consistent with the observation that all syntrophin isoforms bind to the dystrophin C terminus (Fig.
	www.jbc.org /cgi/content/full/270/10/4975 (3987 words)

	Kevin P. Campbell (Site not responding. Last check: 2007-09-24)
		Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene that lead to the complete absence of dystrophin in skeletal muscle.
		Based on interactions of the DGC with the extracellular matrix and the cytoskeleton, and the consequences of loss of function in genes encoding DGC components, we have proposed that at least one function of the DGC is to provide mechanical reinforcement of the sarcolemma and to maintain membrane integrity during cycles of contraction and relaxation.
		The absence of dystrophin would disrupt these interactions, rendering the sarcolemma susceptible to damage from muscle contraction and thus leading to muscle cell necrosis and progressive muscle weakness in patients with DMD.
	www.hhmi.org /research/investigators/campbell.html (1505 words)

	Enteroviral Protease 2A Directly Cleaves Dystrophin and Is Inhibited by a Dystrophin-based Substrate Analogue -- ...
		A, dystrophin consists of a N-terminal domain, a rod domain consisting of 24 spectrin-like repeats with four hinge regions (H1-H4) interspersed, a cysteine-rich domain, and a C-terminal domain (4, 26).
		C, cleavage of the mouse dystrophin hinge 3 region was measured by loss of the fluorescence resonance energy transfer between CFP and YFP.
		Overlapping mouse dystrophin miniproteins spanning from the N terminus to the end of the rod domain were generated and expressed with in vitro transcription and translation.
	www.jbc.org /cgi/content/full/275/15/11191 (4422 words)

	Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure -- Rafael et al. 9 (9): ...
		and relocalization of the DAPC, dystrophin and utrophin are
		The cysteine-rich domain of dystrophin is shown to interact with the integral membrane dystroglycan and sarcoglycan proteins of the DAPC (medium gray), while the C-terminal domain is shown to interact with the syntrophins and dystrobrevins.
		31 Phelps, S.F., Hauser, M.A., Cole, N.M., Rafael, J.A., Hinkle, R.T., Faulkner, J.A. and Chamberlain, J.S. (1995) Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice.
	hmg.oxfordjournals.org /cgi/content/full/9/9/1357 (6856 words)

	Dystrophin - Wikipedia, the free encyclopedia
		Dystrophin is a rod-shaped protein, and a vital part of a protein complex which connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.
		It was first identified in 1987 by Louis M. Kunkel, after the 1986 discovery of the mutated gene that causes Duchenne muscular dystrophy (DMD).
		Normal tissue contains small amounts of dystrophin (about 0.002% of total muscle protein), but its absence leads to both DMD and fibrosis, a condition of muscle hardening.
	en.wikipedia.org /wiki/Dystrophin (191 words)

	MDA Research \| Labs Find Microdystrophin Genes Effective
		Dystrophin genes are the instructions for the muscle protein dystrophin, missing in boys with Duchenne muscular dystrophy (DMD).
		This form of dystrophin, known as Dp260, is missing the N terminal, at the opposite end of dystrophin from the C terminal, as well as some of the midsection of the protein.
		The N terminal is involved in anchoring dystrophin to the inside of the cell.
	www.mda.org /research/060628dmd_microdystrophin.html (528 words)

	Variations in Dystrophin Complex in Red and White Caudal Muscles from Torpedo marmorata -- Royuela et al. 49 (7): 857 ...
		Menke A, Jockusch H (1995) Extent of shock-induced membrane leakage in human and mouse myotubes depends on dystrophin.
		Wagner KR, Huganir RL (1994) Tyrosine and serine phosphorylation of dystrophin and the 58 kDa protein in the postsynaptic membrane of Torpedo electric organ.
		Yeadon JE, Lin H, Dyer SM, Burden SJ (1991) Dystrophin is a component of the subsynaptic membrane.
	www.jhc.org /cgi/content/full/49/7/857 (3956 words)

	Genes, Dystrophin, and Duchenne MD
		It was named "dystrophin," and as it was studied, researchers learned that it had a key role in muscle function.
		The dystrophin gene is one of the largest genes found to date.
		There is another protein similar to dystrophin, called utrophin, which may be able to substitute for it.
	www.malattiemetaboliche.it /articoli/genes_dystrophin.htm (621 words)

	Assembly of the Dystrophin-associated Protein Complex Does Not Require the Dystrophin COOH-terminal Domain -- Crawford ...
		Dystrophin structural motifs are also indicated that include the WW, EF1, EF2, ZZ, and coiled coil (CC) 1 and 2 domains.
		An interaction between dystrobrevin and the integral membrane components of the DAP complex is sufficient to localize syntrophin and dystrobrevin to the membrane in the absence of the dystrophin COOH-terminal domain.
		Amalfitano, A., Rafael, J.A., and Chamberlain, J.S. Structure and mutation of the dystrophin gene.
	www.jcb.org /cgi/content/full/150/6/1399 (6206 words)

	Heterogous Dystrophin mRNA Produced by a Novel Splice Acceptor Site Mutation in Intermediate Dystrophinopathy -- ADACHI ... (Site not responding. Last check: 2007-09-24)
		Dystrophin staining of biopsied skeletal muscle disclosed that both the N-terminal (upper left panel) and C-terminal (upper right panel) regions were negative, whereas the rod domain was weakly positive (upper middle panel).
		a nonsense mutation in exon 2 of the dystrophin gene, it was
		Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M 1997 Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
	www.pedresearch.org /cgi/content/full/53/1/125 (4613 words)

	Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy -- Muntoni et al. 78 (6): 608 -- ...
		Bottom, protein dystrophin and epitopes of three of the antibodies used in the study.
		Dystrophin muscle isoform (M) was amplified as a 494 base pair fragment, the brain isoform (B) as 482 base pairs, and the Purkinje cell isoform (P) as 503 base pairs.
		Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.
	heart.bmjjournals.com /cgi/content/full/78/6/608 (3235 words)

	Dystrophin
		Both forms of MD are caused by mutations in the dystrophin gene, a large (2.6Mb) gene comprised of 97 exons.
		When dystrophin is missing or non-functional, the entire complex is compromised, leading to degeneration of muscle tissue.
		Researchers working on the mouse model of Duchenne MD, mdx mouse, found a similarly puzzling result: a C-terminally truncated version of dystrophin was competent to rescue the MD phenotype in these mice[5].
	compbio.berkeley.edu /people/ed/rust/Dystrophin.html (571 words)

	Suppression of revertant fibers in mdx mice by expression of a functional dystrophin -- Crawford et al. 10 (24): 2745 ...
		Muscle sections expressing the dystrophin Dp71 isoform were stained with antisera against the dystrophin actin-binding domain.
		Dystrophin is detected as a doublet when probed with N-terminal antibodies.
		23 Phelps, S.F., Hauser, M.A., Cole, N.M., Rafael, J.A., Hinkle, R.T., Faulkner, J.A. and Chamberlain, J.S. (1995) Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice.
	hmg.oxfordjournals.org /cgi/content/full/10/24/2745 (3460 words)

	Dystrophin
		The isoforms are encoded by a range of different mRNA's which are generated by three processes; (i) the use of different, unique and often tissue-specific promoters, (ii) alternative splicing, and (iii) the use of different polyA-addition signals.
		Dystrophin is a rod-shaped protein, measuring about 150 nm, consisting of 3684 amino acids with a calculated molecular weight of 427 kDa.
		Dystrophin is predominantly hydrophilic throughout its entire length and 31% of the amino-acids are charged (i.e.
	www.dmd.nl /DMD_home.html (816 words)

	Duchenne muscular dystrophy
		Dystrophin is required inside muscle cells for structural support: it is thought to strengthen muscle cells by anchoring elements of the internal cytoskeleton to the surface membrane.
		A mouse model for DMD exists, and is proving useful for furthering our understanding on both the normal function of dystrophin and the pathology of the disease.
		In particular, initial experiments that increase the production of utrophin, a dystrophin relative, in order to compensate for the loss of dystrophin in the mouse are promising, and may lead to the development of effective therapies for this devastating disease.
	www.ncbi.nlm.nih.gov /disease/DMD.html (227 words)

	Ischemic preconditioning-mediated restoration of membrane dystrophin during reperfusion correlates with protection ...
		Dystrophin is an integral membrane protein involved in the stabilization
		Immunofluorescence staining for dystrophin and EB was performed as described in the text.
		The carboxyl-terminal region of dystrophin is a substrate for in vitro phosphorylation by p34cdc2 protein kinase.
	ajpheart.physiology.org /cgi/content/full/287/1/H81 (5506 words)

	Dystrophin Acts as a Transplantation Rejection Antigen in Dystrophin-Deficient Mice: Implication for Gene Therapy -- ...
		Dystrophin Acts as a Transplantation Rejection Antigen in Dystrophin-Deficient Mice: Implication for Gene Therapy -- Ohtsuka et al.
		Dystrophin Acts as a Transplantation Rejection Antigen in Dystrophin-Deficient Mice: Implication for Gene Therapy
		Suppression of mdx anti-B10 CTL induction by preadministration of dystrophin peptides.
	www.jimmunol.org /cgi/content/full/160/9/4635 (4035 words)

	ScienceDaily: Viral Vector Delivers Dystrophin Gene To Mouse Muscle
		Science Daily — DENVER---University of Michigan scientists have developed a new generation of "gutted" viral vectors that deliver the gene for dystrophin to the muscles of adult mice with muscular dystrophy without triggering their immune systems to attack the foreign virus.
		Dystrophin is a protein critical for normal maintenance of muscle tissue.
		Because they lack the genetic code to produce dystrophin, children with muscular dystrophy gradually lose muscle tissue and die of heart or respiratory failure.
	www.sciencedaily.com /releases/1998/10/981031181529.htm (735 words)

	Genetic Correction of Dystrophin Deficiency and Skeletal Muscle Remodeling in Adult MDX Mouse via Transplantation of ...
		Duchenne muscular dystrophy (DMD) is an X-linked, lethal disease caused by mutations of the dystrophin gene.
		A mosaic population of dystrophin competent and incompetent satellite cells is present in skeletal muscle of female DMD carriers
		dystrophin was mainly localized at the myotube surface membrane.
	www.jci.org /cgi/content/full/100/3/620 (5017 words)

	Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle -- Blake et al. 82 (2): 291 -- ...
		The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin.
		Dystrophin binds to cytoskeletal actin at its NH terminus.
		At its COOH terminus, dystrophin is associated with a number of integral and peripheral membrane proteins that can be classified as the dystroglycan subcomplex, the sarcoglycan-sarcospan subcomplex, and the cytoplasmic subcomplex.
	physrev.physiology.org /cgi/content/full/82/2/291 (8495 words)

	Distinct Patterns of Dystrophin Organization in Myocyte Sarcolemma and Transverse Tubules of Normal and Diseased Human ... (Site not responding. Last check: 2007-09-24)
		and the clustering of dystrophin in the troughs
		The association of cardiac dystrophin with myofibrils/Z-disc regions in cardiac muscle suggests a novel role in the contractile apparatus.
		Dystrophin is not a specific component of the cardiac costamere.
	circ.ahajournals.org /cgi/content/full/101/22/2586 (3805 words)

	Dystrobrevin and dystrophin: An interaction through coiled-coil motifs -- Sadoulet-Puccio et al. 94 (23): 12413 -- ...
		Dystrophin is a member of the spectrin superfamily of actin-binding proteins (11) and has been divided into four general
		The syntrophin-binding site on dystrophin has been delineated to exon 74, directly upstream from the coiled-coil motif (23-25).
		a peptide corresponding to the coiled-coil motif of dystrophin
	www.pnas.org /cgi/content/full/94/23/12413 (4778 words)

	Specific Interaction of the Actin-binding Domain of Dystrophin with Intermediate Filaments Containing Keratin 19 -- ...
		Mutations in the gene for dystrophin cause Duchenne or Becker
		Lapidos, K. A., Kakkar, R., and McNally, E. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma.
		Orlova, A., Rybakova, I. N., Prochniewicz, E., Thomas, D. D., Ervasti, J. M., and Egelman, E. Binding of dystrophin's tandem calponin homology domain to F-actin is modulated by actin's structure.
	www.molbiolcell.org /cgi/content/full/16/9/4280 (8259 words)

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