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https://www.readbyqxmd.com/read/28219397/immunohistochemistry-of-sarcolemmal-membrane-associated-proteins-in-formalin-fixed-and-paraffin-embedded-skeletal-muscle-tissue-a-promising-tool-for-the-diagnostic-evaluation-of-common-muscular-dystrophies
#1
Chinnawut Suriyonplengsaeng, Charungthai Dejthevaporn, Chaiyos Khongkhatithum, Suda Sanpapant, Nattha Tubthong, Koset Pinpradap, Nippa Srinark, Jariya Waisayarat
BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis...
February 20, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28208626/2-o-methyl-rna-ethylene-bridged-nucleic-acid-chimera-antisense-oligonucleotides-to-induce-dystrophin-exon-45-skipping
#2
REVIEW
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, Masaaki Matsumoto, Nobuaki Watanabe, Ryoya Goda, Makoto Koizumi, Yasuhiro Takeshima, Masafumi Matsuo
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease characterized by dystrophin deficiency from mutations in the dystrophin gene. Antisense oligonucleotide (AO)-mediated exon skipping targets restoration of the dystrophin reading frame to allow production of an internally deleted dystrophin protein with functional benefit for DMD patients who have out-of-frame deletions. After accelerated US approval of eteplirsen (Exondys 51), which targets dystrophin exon 51 for skipping, efforts are now focused on targeting other exons...
February 10, 2017: Genes
https://www.readbyqxmd.com/read/28206694/translational-readthrough-generates-new-astrocyte-aqp4-isoforms-that-modulate-supramolecular-clustering-glial-endfeet-localization-and-water-transport
#3
Manuela De Bellis, Francesco Pisani, Maria Grazia Mola, Stefania Rosito, Laura Simone, Cinzia Buccoliero, Maria Trojano, Grazia Paola Nicchia, Maria Svelto, Antonio Frigeri
Regulation of water homeostasis is a central feature of central nervous system pathophysiology. In this context, several lines of evidence suggest a crucial role for the water channel aquaporin-4 (AQP4) and its plasma membrane supramolecular organization as the key element. Here, we demonstrate the expression in tissues of additional isoforms of AQP4 characterized by a C-terminal extension generated by programmed translational readthrough. These extended isoforms (AQP4ex) display a perivascular polarization and expression in dystrophin-dependent pools...
February 16, 2017: Glia
https://www.readbyqxmd.com/read/28195574/muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#4
Niclas E Bengtsson, John K Hall, Guy L Odom, Michael P Phelps, Colin R Andrus, R David Hawkins, Stephen D Hauschka, Joel R Chamberlain, Jeffrey S Chamberlain
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9. Here we develop multiple approaches for editing the mutation in dystrophic mdx(4cv) mice using single and dual AAV vector delivery of a muscle-specific Cas9 cassette together with single-guide RNA cassettes and, in one approach, a dystrophin homology region to fully correct the mutation...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28188344/skeletal-muscle-secretome-in-duchenne-muscular-dystrophy-a-pivotal-anti-inflammatory-role-of-adiponectin
#5
S Lecompte, M Abou-Samra, R Boursereau, L Noel, S M Brichard
BACKGROUND: Persistent inflammation exacerbates the progression of Duchenne muscular dystrophy (DMD). The hormone, adiponectin (ApN), which is decreased in the metabolic syndrome, exhibits anti-inflammatory properties on skeletal muscle and alleviates the dystrophic phenotype of mdx mice. Here, we investigate whether ApN retains its anti-inflammatory action in myotubes obtained from DMD patients. We unravel the underlying mechanisms by studying the secretome and the early events of ApN...
February 10, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28181471/phenotypic-variability-of-dystrophinopathy-symptomatic-female-carriers
#6
Ana Cotta, Julia Filardi Paim, Elmano Carvalho, Mônica Machado Navarro, Jaquelin Valicek, Antonio Lopes da-Cunha-Junior, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Eni Braga da Silveira, Cynthia Costa-E-Silva, Reinaldo Issao Takata, Antonio Pedro Vargas
BACKGROUND: Dystrophinopathies are X-linked muscular dystrophies characterized by pathogenic mutations in the dystrophin gene. Symptomatic dystrophinopathy female carriers may present with limb-girdle weakness. The diagnosis may be challenging in the absence of affected male relatives. We aimed to describe the phenotypic variability in a series of molecular-confirmed female dystrophinopathy patients. METHODS: This is a retrospective analysis of medical records from 1997 to 2015...
February 9, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28169120/comparison-of-ambulatory-capacity-and-disease-progression-of-duchenne-muscular-dystrophy-subjects-enrolled-in-the-drisapersen-dmd114673-study-with-a-matched-natural-history-cohort-of-subjects-on-daily-corticosteroids
#7
Nathalie Goemans, Mar Tulinius, Anna-Karin Kroksmark, Rosamund Wilson, Marleen van den Hauwe, Giles Campion
Duchenne muscular dystrophy is a rare genetic disorder with life-limiting pathology. Drisapersen induces exon 51 skipping, thereby producing a shorter but functional dystrophin protein. The longest available data are from an open-label extension study (PRO051-02) treating 12 boys with drisapersen (6 mg/kg/week subcutaneously). The median change (range) from baseline to week 177 in six-minute walking distance (6MWD) was 8 (-263, 163) metres. The current analysis aimed to put the results from PRO051-02 in the context of natural progression by comparing the functional trajectory of drisapersen-treated subjects to a matched natural history (NH) cohort, treated by standard of care...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28161362/ngf-dependent-axon-growth-and-regeneration-are-altered-in-sympathetic-neurons-of-dystrophic-mdx-mice
#8
Loredana Lombardi, Irene Persiconi, Alessandra Gallo, Casper C Hoogenraad, Maria Egle De Stefano
Duchenne muscular dystrophy (DMD) is a lethal disease, determined by lack of dystrophin (Dp427), a muscular cytoskeletal protein also expressed by selected neuronal populations. Consequently, besides muscular wasting, both human patients and DMD animal models suffer several neural disorders. In previous studies on the superior cervical ganglion (SCG) of wild type and dystrophic mdx mice (Lombardi et al. 2008), we hypothesized that Dp427 could play some role in NGF-dependent axonal growth, both during development and adulthood...
February 2, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28159978/protection-of-glial-m%C3%A3-ller-cells-by-dexamethasone-in-a-mouse-model-of-surgically-induced-blood-retinal-barrier-breakdown
#9
Lourdes Siqueiros-Marquez, Romain Bénard, Ophélie Vacca, Hugo Charles-Messance, Rodrigo Bolaños-Jimenez, Xavier Guilloneau, Florian Sennlaub, Cecilia Montañez, José Alain Sahel, Alvaro Rendon, Ramin Tadayoni, Audrey Giocanti-Aurégan
Purpose: Breakdown of the inner blood-retinal barrier (iBRB) occurs in many retinal disorders and may cause retinal edema often responsible for vision loss. Dexamethasone is used in clinical practice to restore iBRB. The aim of this study was to characterize the impact of a surgically induced iBRB breakdown on retinal homeostatic changes due to dystrophin Dp71, aquaporin-4 (AQP4), and Kir4.1 alterations in Müller glial cells (MGC) in a mouse model. The protective effect of dexamethasone was assessed in this model...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28152980/dmdtoolkit-a-tool-for-visualizing-the-mutated-dystrophin-protein-and-predicting-the-clinical-severity-in-dmd
#10
Jiapeng Zhou, Jing Xin, Yayun Niu, Shiwen Wu
BACKGROUND: Dystrophinopathy is one of the most common human monogenic diseases which results in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Mutations in the dystrophin gene are responsible for both DMD and BMD. However, the clinical phenotypes and treatments are quite different in these two muscular dystrophies. Since early diagnosis and treatment results in better clinical outcome in DMD it is essential to establish accurate early diagnosis of DMD to allow efficient management...
February 2, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28152217/advances-in-the-treatment-of-duchenne-muscular-dystrophy-new-and-emerging-pharmacotherapies
#11
Andrea M Reinig, Sara Mirzaei, Daniel J Berlau
Duchenne muscular dystrophy (DMD) is a genetic, neuromuscular disease that primarily affects young males. Patients with DMD are unable to produce dystrophin, a crucial protein found in myocytes, leading to a loss of muscle support and integrity. Corticosteroids are the standard supportive treatment for DMD; however, there is a high demand to expand the number of safe, effective pharmacological options. Recently there has been a surge of new therapeutics for DMD, offering hope to patients. A variety of these new medications, such as stop codon readthrough agents, exon-skipping agents, and utrophin modulators aim to replace dystrophin in myocytes...
February 2, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28139886/genomic-integration-of-the-full-length-dystrophin-coding-sequence-in-duchenne-muscular-dystrophy-induced-pluripotent-stem-cells
#12
Alfonso P Farruggio, Mital S Bhakta, Haley du Bois, Julia Ma, Michele P Calos
We developed plasmid vectors that express the full-length human dystrophin coding sequence in human cells. Dystrophin, the protein mutated in Duchenne muscular dystrophy, is extraordinarily large, providing challenges for cloning and plasmid production in E. coli. We expressed dystrophin from the strong, widely expressed CAG promoter, along with co-transcribed luciferase and mCherry marker genes useful for tracking plasmid expression. Introns were added at the 3' and 5' ends of the dystrophin sequence to prevent translation in E...
January 31, 2017: Biotechnology Journal
https://www.readbyqxmd.com/read/28127699/dystrophin-dp71-isoforms-are-differentially-expressed-in-the-mouse-brain-and-retina-report-of-new-alternative-splicing-and-a-novel-nomenclature-for-dp71-isoforms
#13
Jorge Aragón, Mayram González-Reyes, José Romo-Yáñez, Ophélie Vacca, Guadalupe Aguilar-González, Alvaro Rendón, Cyrille Vaillend, Cecilia Montañez
Multiple dystrophin Dp71 isoforms have been identified in rats, mice, and humans and in several cell line models. These Dp71 isoforms are produced by the alternative splicing of exons 71 to 74 and 78 and intron 77. Three main groups of Dp71 proteins are defined based on their C-terminal specificities: Dp71d, Dp71f, and Dp71e. Dp71 is highly expressed in the brain and retina; however, the specific isoforms present in these tissues have not been determined to date. In this work, we explored the expression of Dp71 isoforms in the mouse brain and retina using RT-PCR assays followed by the cloning of PCR products into the pGEM-T Easy vector, which was used to transform DH5α cells...
January 27, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28112097/a-novel-fkrp-related-muscular-dystrophy-founder-mutation-in-south-african-afrikaner-patients-with-a-phenotype-suggestive-of-a-dystrophinopathy
#14
M M Mudau, F Essop, A Krause
BACKGROUND: Fukutin-related protein (FKRP) muscular dystrophy is an autosomal recessive disorder caused by mutations in the FKRP gene. The condition is often misdiagnosed as a dystrophinopathy. A previously unreported mutation, c.1100T>C in exon 4 of FKRP, had been identified in homozygous form in two white South African (SA) Afrikaner patients clinically diagnosed with a dystrophinopathy. OBJECTIVES: To investigate whether the c.1100T>C mutation and the common European FKRP mutation c...
December 21, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28108217/cdk3-is-a-major-target-of-mir-150-in-cell-proliferation-and-anti-cancer-effect
#15
Liang Wang, Yongyong Xi, Chengcao Sun, Feng Zhang, Heng Jiang, Qiqiang He, Dejia Li
MiR-150, a member of small non-coding RNAs, has been proven to dysregulate in different types of tumor and bear on carcinogenesis and cancer prognosis by regulating the expression of a series of gene including utrophin. Given that utrophin can compensate for dystrophin's absence and be regarded as a promising therapeutic target for Duchenne Muscular Dystrophy (DMD), we further detected the deep role of miR-150 in dystrophic muscle. Using a range of bioinformatic, molecular and cell biology techniques, we declared that miR-150 directly targets cyclin-dependent kinase 3 (CDK3) and leads to the regulation of CDK3 gene expression in both muscle-derived and non-muscle cells...
January 17, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28107841/adeno-associated-virus-mediated-mini-agrin-delivery-is-unable-to-rescue-disease-phenotype-in-a-mouse-model-of-limb-girdle-muscular-dystrophy-type-2i
#16
Charles H Vannoy, Haowen Zhou, Chunping Qiao, Xiao Xiao, Anne G Bang, Qi L Lu
Agrin is a basement membrane-specific proteoglycan that can regulate orientation of cytoskeleton proteins and improve function of dystrophic skeletal muscle. In skeletal muscle, agrin binds with high affinity to laminin(s) and α-dystroglycan (α-DG), an integral part of the dystrophin-glycoprotein complex. Miniaturized forms of agrin (mAgrin) have been shown to ameliorate disease pathology in a laminin-α2 knockout mouse model of muscular dystrophy, acting as a link between α-DG and laminin(s). Here, we test whether mAgrin might also improve pathologies associated with FKRP-related dystroglycanopathies, another form of muscular dystrophy characterized by weak interactions between muscle and basement membranes...
February 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28101868/dystrophin-and-spectrin-two-highly-dissimilar-sisters-of-the-same-family
#17
Olivier Delalande, Aleksander Czogalla, Jean-François Hubert, Aleksander Sikorski, Elisabeth Le Rumeur
Dystrophin and Spectrin are two proteins essential for the organization of the cytoskeleton and for the stabilization of membrane cells. The comparison of these two sister proteins, and with the dystrophin homologue utrophin, enables us to emphasise that, despite a similar topology with common subdomains and a common structural basis of a three-helix coiled-coil, they show a large range of dissimilarities in terms of genetics, cell expression and higher level structural organisation. Interactions with cellular partners, including proteins and membrane phospholipids, also show both strikingly similar and very different behaviours...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28100912/cryptic-splice-activation-but-not-exon-skipping-is-observed-in-minigene-assays-of-dystrophin-c-9361-1g-a-mutation-identified-by-ngs
#18
Emma Tabe Eko Niba, Atsushi Nishida, Van Khanh Tran, Dung Chi Vu, Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Hisahide Nishio, Masafumi Matsuo
Next-generation sequencing (NGS) discloses nucleotide changes in the genome. Mutations at splicing regulatory elements are expected to cause splicing errors, such as exon skipping, cryptic splice site activation, partial exon loss or intron retention. In dystrophinopathy patients, prediction of splicing outcomes is essential to determine the phenotype: either severe Duchenne or mild Becker muscular dystrophy, based on the reading frame rule. In a Vietnamese patient, NGS identified a c.9361+1G>A mutation in the dystrophin gene and an additional DNA variation of A>G at +117 bases in intron 64...
January 19, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28099279/new-survival-target-for-duchenne-muscular-dystrophy
#19
Marcello Villanova, Sifa Kazibwe
We report a patient with a typical phenotype and clinical history of Duchenne muscular dystrophy who is currently 53 years old. Because of improvements in cardiopulmonary care, there has been a great improvement in survival and preservation of quality of life for many of these patients. Whereas it is no longer rare to find patients with Duchenne muscular dystrophy living into their fifth decade, this is the first report of a patient in his sixth decade of life. We believe that besides use of continuous noninvasive respiratory support, the fortuitous absence of dilated cardiomyopathy associated with the particular point mutation of his dystrophin gene has permitted prolonged survival...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28089792/pharmacological-inhibition-of-pkc%C3%AE-counteracts-muscle-disease-in-a-mouse-model-of-duchenne-muscular-dystrophy
#20
V Marrocco, P Fiore, A Benedetti, S Pisu, E Rizzuto, A Musarò, L Madaro, B Lozanoska-Ochser, M Bouché
: Inflammation plays a considerable role in the progression of Duchenne Muscular Dystrophy (DMD), a severe muscle disease caused by a mutation in the dystrophin gene. We previously showed that genetic ablation of Protein Kinase C θ (PKCθ) in mdx, the mouse model of DMD, improves muscle healing and regeneration, preventing massive inflammation. To establish whether pharmacological targeting of PKCθ in DMD can be proposed as a therapeutic option, in this study we treated young mdx mice with the PKCθ inhibitor Compound 20 (C20)...
January 7, 2017: EBioMedicine
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