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https://www.readbyqxmd.com/read/29679381/comparative-gel-based-proteomic-analysis-of-chemically-crosslinked-complexes-in-dystrophic-skeletal-muscle
#1
Sandra Murphy, Margit Zweyer, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
Duchenne muscular dystrophy is a highly progressive muscle wasting disease with a complex pathophysiology that is based on primary abnormalities in the dystrophin gene. In order to study potential changes in the oligomerisation of high-molecular-mass protein complexes in dystrophic skeletal muscle, chemical crosslinking was combined with mass spectrometric analysis. The biochemical stabilization of protein interactions was carried out with the homo-bifunctional and amine-reactive agent bis[sulfosuccinimidyl]suberate, followed by protein shift analysis in one-dimensional gels...
April 20, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29669851/systemic-administration-of-the-antisense-oligonucleotide-ns-065-ncnp-01-for-skipping-of-exon-53-in-patients-with-duchenne-muscular-dystrophy
#2
Hirofumi Komaki, Tetsuya Nagata, Takashi Saito, Satoru Masuda, Eri Takeshita, Masayuki Sasaki, Hisateru Tachimori, Harumasa Nakamura, Yoshitsugu Aoki, Shin'ichi Takeda
Duchenne muscular dystrophy (DMD) is a lethal hereditary muscle disease caused by mutations in the gene encoding the muscle protein dystrophin. These mutations result in a shift in the open reading frame leading to loss of the dystrophin protein. Antisense oligonucleotides (ASOs) that induce exon skipping correct this frame shift during pre-mRNA splicing and partially restore dystrophin expression in mouse and dog models. We conducted a phase 1, open-label, dose-escalation clinical trial to determine the safety, pharmacokinetics, and activity of NS-065/NCNP-01, a morpholino ASO that enables skipping of exon 53...
April 18, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29669436/heme-oxygenase-1-influences-satellite-cells-and-progression-of-duchenne-muscular-dystrophy-in-mice
#3
Katarzyna Pietraszek-Gremplewicz, Magdalena Kozakowska, Iwona Bronisz-Budzynska, Maciej Ciesla, Olga Mucha, Paulina Podkalicka, Magdalena Madej, Urszula Glowniak, Krzysztof Tomasz Szade, Jacek Stepniewski, Mateusz Jez, Kalina Andrysiak, Karolina Bukowska-Strakova, Anna Kaminska, Anna Kostera-Pruszczyk, Alicja Jozkowicz, Agnieszka Loboda, Jozef Dulak
AIMS: Muscle damage in Duchenne Muscular Dystrophy (DMD) caused by the lack of dystrophin is strongly linked to inflammation. Heme oxygenase-1 (HO-1; Hmox1) is an anti-inflammatory and cytoprotective enzyme affecting myoblasts differentiation by inhibiting myomirs. The role of HO-1 has not been so far well addressed in DMD. RESULTS: In dystrophin-deficient mdx mice expression of Hmox1 in limb skeletal muscles and diaphragm is higher than in wild-type animals, being consistently elevated from 8 up to 52 weeks, both in myofibres and inflammatory leukocytes...
April 19, 2018: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29653394/generation-of-duchenne-muscular-dystrophy-patient-specific-induced-pluripotent-stem-cell-line-lacking-exons-45-50-of-the-dystrophin-gene-iiti001-a
#4
Binyamin Eisen, Ronen Ben Jehuda, Ashley J Cuttitta, Lucy N Mekies, Irina Reiter, Sindhu Ramchandren, Michael Arad, Daniel E Michele, Ofer Binah
Duchenne muscular dystrophy (DMD) is an X-linked progressive muscle degenerative disease caused by mutations in the dystrophin gene. We generated induced pluripotent stem cells (iPSCs) from a 13-year-old male patient carrying a deletion mutation of exons 45-50; iPSCs were subsequently differentiated into cardiomyocytes. iPSCs exhibit expression of the pluripotent markers (SOX2, NANOG, OCT4), differentiation capacity into the three germ layers, normal karyotype, genetic identity to the skin biopsy dermal fibroblasts and the patient-specific dystrophin mutation...
April 3, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29649068/is-exercise-the-right-medicine-for-dystrophic-muscle
#5
Hannah R Spaulding, Joshua T Selsby
INTRODUCTION: Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by a dystrophin protein deficiency. Dystrophin functions to stabilize and protect the muscle fiber during muscle contraction, thus the absence of functional dystrophin protein leads to muscle injury. DMD patients experience progressive muscle necrosis, loss of function, and ultimately succumb to respiratory failure or cardiomyopathy. Exercise is known to improve muscle health and strength in healthy individuals as well as positively impact other systems...
April 11, 2018: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/29643396/effects-of-muscle-relaxants-on-ischaemia-damage-in-skeletal-muscle
#6
Thomas Ledowski, Simone Nißler, Manuel Wenk, Esther M Pogatzki-Zahn, Daniel Segelcke
Muscle ischaemia is frequently induced intraoperatively by i.e. a surgical tourniquet or during the re-grafting phase of a free muscle transplant. The resulting muscle cell damage may impact on postoperative recovery. Neuromuscular paralysis may mitigate the effects of ischaemia. After ethics approval, 25 male Sprague-Dawley rats were anaesthetized and randomly assigned to 1 of 4 groups: Sham operation, treatment with normal saline, treatment with rocuronium (muscle relaxant) 0.6 or 1 mg kg-1 , respectively...
April 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29625189/the-dystrophin-isoform-dp71e-%C3%AE-71-is-involved-in-neurite-outgrowth-and-neuronal-differentiation-of-pc12-cells
#7
César García-Cruz, Candelaria Merino-Jiménez, Víctor Ceja, Jorge Aragón, Lourdes Siqueiros-Márquez, Juan Pablo Reyes-Grajeda, Cecilia Montañez
The Dp71 protein is the most abundant dystrophin in the central nervous system (CNS). Several dystrophin Dp71 isoforms have been described and are classified into three groups, each with a different C-terminal end. However, the functions of Dp71 isoforms remain unknown. In the present study, we analysed the effect of Dp71eΔ71 overexpression on neuronal differentiation of PC12 Tet-On cells. Overexpression of dystrophin Dp71eΔ71 stimulates neuronal differentiation, increasing the percentage of cells with neurites and neurite length...
April 3, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29623298/a-murine-model-of-charcot-marie-tooth-disease-4f-reveals-a-role-for-the-c-terminus-of-periaxin-in-the-formation-and-stabilization-of-cajal-bands
#8
Diane L Sherman, Peter J Brophy
Charcot-Marie-Tooth (CMT) disease comprises up to 80 monogenic inherited neuropathies of the peripheral nervous system (PNS) that collectively result in demyelination and axon degeneration. The majority of CMT disease is primarily either dysmyelinating or demyelinating in which mutations affect the ability of Schwann cells to either assemble or stabilize peripheral nerve myelin. CMT4F is a recessive demyelinating form of the disease caused by mutations in the Periaxin ( PRX ) gene . Periaxin (Prx) interacts with Dystrophin Related Protein 2 (Drp2) in an adhesion complex with the laminin receptor Dystroglycan (Dag)...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29618008/variable-rescue-of-microtubule-and-physiological-phenotypes-in-mdx-muscle-expressing-different-miniaturized-dystrophins
#9
D'anna M Nelson, Angus Lindsay, Luke M Judge, Dongsheng Duan, Jeffrey S Chamberlain, Dawn A Lowe, James M Ervasti
Delivery of miniaturized dystrophin genes via adeno-associated viral vectors is one leading approach in development to treat Duchenne muscular dystrophy. Here we directly compared the functionality of five mini- and micro-dystrophins via skeletal muscle-specific transgenic expression in dystrophin-deficient mdx mice. We evaluated their ability to rescue defects in the microtubule network, passive stiffness, and contractility of skeletal muscle. Transgenic mdx mice expressing the short dystrophin isoform Dp116 served as a negative control...
March 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29615556/ethanol-exposure-causes-muscle-degeneration-in-zebrafish
#10
Elizabeth C Coffey, Maggie E Pasquarella, Michelle F Goody, Clarissa A Henry
Alcoholic myopathies are characterized by neuromusculoskeletal symptoms such as compromised movement and weakness. Although these symptoms have been attributed to neurological damage, EtOH may also target skeletal muscle. EtOH exposure during zebrafish primary muscle development or adulthood results in smaller muscle fibers. However, the effects of EtOH exposure on skeletal muscle during the growth period that follows primary muscle development are not well understood. We determined the effects of EtOH exposure on muscle during this phase of development...
March 9, 2018: Journal of Developmental Biology
https://www.readbyqxmd.com/read/29614692/determination-of-qpcr-reference-genes-suitable-for-normalizing-gene-expression-in-a-canine-model-of-duchenne-muscular-dystrophy
#11
John C W Hildyard, Frances Taylor-Brown, Claire Massey, Dominic J Wells, Richard J Piercy
BACKGROUND: Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches that found in human patients. Canine models are however less thoroughly characterised than the established mdx mouse in many aspects, including gene expression. Analysis of expression in muscle plays a key role in the study of DMD, allowing monitoring and assessment of disease progression, evaluation of novel biomarkers and gauging of therapeutic intervention efficacy...
March 26, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29610182/unusual-presentations-of-dystrophinopathies-in-childhood
#12
Nicholas M Allen, Alice Ewer, Vasiliki Nakou, Ele Konstantoulaki, Elizabeth Wraige, Vasantha Gowda, Heinz Jungbluth
X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2 girls) referred to a tertiary pediatric neuromuscular clinic for isolated elevated creatine kinase levels (range: 720-7000 IU/L) identified on initial assessment for otherwise unexplained transaminase elevations ( n = 2), a social communication disorder ( n = 3), and exertional myalgia and/or rhabdomyolysis ( n = 1)...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29601589/influence-of-full-length-dystrophin-on-brain-volumes-in-mouse-models-of-duchenne-muscular-dystrophy
#13
Bauke Kogelman, Artem Khmelinskii, Ingrid Verhaart, Laura van Vliet, Diewertje I Bink, Annemieke Aartsma-Rus, Maaike van Putten, Louise van der Weerd
Duchenne muscular dystrophy (DMD) affects besides muscle also the brain, resulting in memory and behavioral problems. The consequences of dystrophinopathy on gross macroscopic alterations are unclear. To elucidate the effect of full-length dystrophin expression on brain morphology, we used high-resolution post-mortem MRI in mouse models that either express 0% (mdx), 100% (BL10) or a low amount of full-length dystrophin (mdx-XistΔhs). While absence or low amounts of full-length dystrophin did not significantly affect whole brain volume and skull morphology, we found differences in volume of individual brain structures...
2018: PloS One
https://www.readbyqxmd.com/read/29594829/autism-spectrum-disorders-are-prevalent-among-patients-with-dystrophinopathies
#14
Haruo Fujino, Toshio Saito, Tsuyoshi Matsumura, Saki Shibata, Yuko Iwata, Harutoshi Fujimura, Osamu Imura
Recent studies have reported a higher prevalence of autism spectrum disorders among patients with dystrophinopathies. The aim of this study was to investigate the prevalence of autism spectrum disorder (ASD) among those with dystrophinopathies. The possible role of dystrophin isoforms in patients was also explored. Fifty-six patients recruited from Toneyama National Hospital were included in this study (mean age = 12.9 years, SD = 5.2 years). Autistic symptoms were evaluated using the Pervasive Developmental Disorders/Autism Spectrum Disorders Rating Scale (PARS), a clinician rating scale...
March 28, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29582400/enhancing-endogenous-nitric-oxide-by-whole-body-periodic-acceleration-elicits-neuroprotective-effects-in-dystrophic-neurons
#15
Jose R Lopez, A Uryash, J Kolster, E Estève, R Zhang, J A Adams
We have previously shown that inadequate dystrophin in cortical neurons in mdx mice is associated with age-dependent dyshomeostasis of resting intracellular Ca2+ ([Ca2+ ]i ) and Na+ ([Na+ ]i ), elevated reactive oxygen species (ROS) production, increase in neuronal damage and cognitive deficit. In this study, we assessed the potential therapeutic properties of the whole body periodic acceleration (pGz) to ameliorate the pathology observed in cortical neurons from the mdx mouse. pGz adds small pulses to the circulation, thereby increasing pulsatile shear stress to the vascular endothelium, which in turn increases production of nitric oxide (NO)...
March 26, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29581631/dystrophin-exon-29-nonsense-mutations-cause-a-variably-mild-phenotype
#16
Rebecca S Moore, Sandya Tirupathi, Brian Herron, Andrew Sands, Patrick J Morrison
Background: Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype. Findings: We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker muscular dystrophy type. No adults have been described with this mutation to date. Conclusions: Exon skipping of exon 29 results in a higher level of functional dystrophin...
September 2017: Ulster Medical Journal
https://www.readbyqxmd.com/read/29581456/sex-genotyping-of-archival-fixed-and-immunolabeled-guinea-pig-cochleas
#17
Frédéric F Depreux, Lyubov Czech, Donna S Whitlon
For decades, outbred guinea pigs (GP) have been used as research models. Various past research studies using guinea pigs used measures that, unknown at the time, may be sex-dependent, but from which today, archival tissues may be all that remain. We aimed to provide a protocol for sex-typing archival guinea pig tissue, whereby past experiments could be re-evaluated for sex effects. No PCR sex-genotyping protocols existed for GP. We found that published sequence of the GP Sry gene differed from that in two separate GP stocks...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29579078/a-novel-high-throughput-immunofluorescence-analysis-method-for-quantifying-dystrophin-intensity-in-entire-transverse-sections-of-duchenne-muscular-dystrophy-muscle-biopsy-samples
#18
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of nonsense mutations and viral mediated gene therapy. In all these strategies, different dystrophin proteins, often internally deleted, are produced, similar to those found in patients with the milder DMD allelic variant, Becker muscular dystrophy (BMD). The primary biological endpoint of these trials is to induce functional dystrophin expression...
2018: PloS One
https://www.readbyqxmd.com/read/29578119/molecular-analysis-based-genetic-characterization-of-a-cohort-of-patients-with-duchenne-and-becker-muscular-dystrophy-in-eastern-china
#19
Hui-Hui Zhao, Xue-Ping Sun, Ming-Chao Shi, Yong-Xiang Yi, Hong Cheng, Xing-Xia Wang, Qing-Cheng Xu, Hong-Ming Ma, Hao-Quan Wu, Qing-Wen Jin, Qi Niu
Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-linked recessive neuromuscular disorders caused by mutations in dystrophin gene. Multiplex polymerase chain reaction (multiplex PCR) and multiplex ligation-dependent probe amplification (MLPA) are the most common methods for detecting dystrophin gene mutations. This study aimed to contrast the two methods and discern the genetic characterization of patients with DMD/BMD in Eastern China. Methods: We collected 121 probands, 64 mothers of probands, and 15 fetuses in our study...
April 5, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29571923/prevalence-and-long-term-monitoring-of-humoral-immunity-against-adeno-associated-virus-in-duchenne-muscular-dystrophy-patients
#20
Christian Leborgne, Virginie Latournerie, Sylvie Boutin, Diana Desgue, Aliénor Quéré, Elodie Pignot, Fanny Collaud, Séverine Charles, Marcelo Simon Sola, Elisa Masat, Fabienne Jouen, Olivier Boyer, Carole Masurier, Federico Mingozzi, Philippe Veron
Adeno-associated virus (AAV) vectors are promising candidates for gene therapy and have been explored as gene delivery vehicles in the treatment of Duchenne Muscular Dystrophy (DMD). Recent studies showed compelling evidence of therapeutic efficacy in large animal models following the intravenous delivery of AAV vectors expressing truncated forms of dystrophin. However, to translate these results to humans, careful assessment of the prevalence of anti-AAV neutralizing antibodies (NAbs) is needed, as presence of preexisting NABs to AAV in serum have been associated with a drastic diminution of vector transduction...
March 16, 2018: Cellular Immunology
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