keyword
MENU ▼
Read by QxMD icon Read
search

Dystrophin

keyword
https://www.readbyqxmd.com/read/29215066/pharmacological-inhibition-of-rev-erb-stimulates-differentiation-inhibits-turnover-and-reduces-fibrosis-in-dystrophic-muscle
#1
Ryan D Welch, Cyrielle Billon, Aurore-Cecile Valfort, Thomas P Burris, Colin A Flaveny
Duchenne muscular dystrophy (DMD) is a debilitating X-linked disorder that is fatal. DMD patients lack the expression of the structural protein dystrophin caused by mutations within the DMD gene. The absence of functional dystrophin protein results in excessive damage from normal muscle use due to the compromised structural integrity of the dystrophin associated glycoprotein complex. As a result, DMD patients exhibit ongoing cycles of muscle destruction and regeneration that promote inflammation, fibrosis, mitochondrial dysfunction, satellite cell (SC) exhaustion and loss of skeletal and cardiac muscle function...
December 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29215041/crispr-cas9-delivery-with-one-single-adenoviral-vector-devoid-of-all-viral-genes
#2
Eric Ehrke-Schulz, Maren Schiwon, Theo Leitner, Stephan Dávid, Thorsten Bergmann, Jing Liu, Anja Ehrhardt
The Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 system revolutionized the field of gene editing but viral delivery of the CRISPR/Cas9 system has not been fully explored. Here we adapted clinically relevant high-capacity adenoviral vectors (HCAdV) devoid of all viral genes for the delivery of the CRISPR/Cas9 machinery using a single viral vector. We present a platform enabling fast transfer of the Cas9 gene and gRNA expression units into the HCAdV genome including the option to choose between constitutive or inducible Cas9 expression and gRNA multiplexing...
December 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29211034/glucocorticoids-improve-myogenic-differentiation-in-vitro-by-suppressing-the-synthesis-of-versican-a-transitional-matrix-protein-overexpressed-in-dystrophic-skeletal-muscles
#3
Natasha McRae, Leonard Forgan, Bryony McNeill, Alex Addinsall, Daniel McCulloch, Chris Van der Poel, Nicole Stupka
In Duchenne muscular dystrophy (DMD), a dysregulated extracellular matrix (ECM) directly exacerbates pathology. Glucocorticoids are beneficial therapeutics in DMD, and have pleiotropic effects on the composition and processing of ECM proteins in other biological contexts. The synthesis and remodelling of a transitional versican-rich matrix is necessary for myogenesis; whether glucocorticoids modulate this transitional matrix is not known. Here, versican expression and processing were examined in hindlimb and diaphragm muscles from mdx dystrophin-deficient mice and C57BL/10 wild type mice...
December 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29210997/tempol-supplementation-restores-diaphragm-force-and-metabolic-enzyme-activities-in-mdx-mice
#4
David P Burns, Izza Ali, Clement Rieux, James Healy, Greg Jasionek, Ken D O'Halloran
Duchenne muscular dystrophy (DMD) is characterized by striated muscle weakness, cardiomyopathy, and respiratory failure. Since oxidative stress is recognized as a secondary pathology in DMD, the efficacy of antioxidant intervention, using the superoxide scavenger tempol, was examined on functional and biochemical status of dystrophin-deficient diaphragm muscle. Diaphragm muscle function was assessed, ex vivo, in adult male wild-type and dystrophin-deficient mdx mice, with and without a 14-day antioxidant intervention...
December 6, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/29209866/photobiomodulation-therapy-protects-skeletal-muscle-and-improves-muscular-function-of-mdx-mice-in-a-dose-dependent-manner-through-modulation-of-dystrophin
#5
Gianna Móes Albuquerque-Pontes, Heliodora Leão Casalechi, Shaiane Silva Tomazoni, Andrey Jorge Serra, Cheila de Sousa Bacelar Ferreira, Rodrigo Barbosa de Oliveira Brito, Brunno Lemes de Melo, Adriane Aver Vanin, Kadma Karênina Damasceno Soares Monteiro, Humberto Dellê, Lucio Frigo, Rodrigo Labat Marcos, Paulo de Tarso Camillo de Carvalho, Ernesto Cesar Pinto Leal-Junior
This study aimed to analyze the protective effects of photobiomodulation therapy (PBMT) with combination of low-level laser therapy (LLLT) and light emitting diode therapy (LEDT) on skeletal muscle tissue to delay dystrophy progression in mdx mice (DMD mdx ). To this aim, mice were randomly divided into five different experimental groups: wild type (WT), placebo-control (DMD mdx ), PBMT with doses of 1 J (DMD mdx ), 3 J (DMD mdx ), and 10 J (DMD mdx ). PBMT was performed employing a cluster probe with 9 diodes (1 x 905nm super-pulsed laser diode; 4 x 875nm infrared LEDs; and 4 x 640nm red LEDs, manufactured by Multi Radiance Medical®, Solon - OH, USA), 3 times a week for 14 weeks...
December 5, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/29201118/duchenne-muscular-dystrophy-dmd-protein-protein-interaction-mapping
#6
Mostafa Rezaei Tavirani, Farshad OkHOVATIAN, Mona Zamanian Azodi, Majid Rezaei Tavirani
Objective: Duchenne muscular dystrophy (DMD) is one of the mortal diseases, subjected to study in terms of molecular investigation. In this study, the protein interaction map of this muscle-wasting condition was generated to gain a better knowledge of interactome profile of DMD. Materials & Methods: Applying Cytoscape and String Database, the protein-protein interaction network was constructed and the gene ontology of the constructed network was analyzed for biological process, molecular function, and cellular component annotations...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29197093/the-association-between-irisin-and-muscle-metabolism-in-different-thyroid-disorders
#7
Ariadna Zybek-Kocik, Nadia Sawicka-Gutaj, Ewelina Szczepanek-Parulska, Mirosław Andrusiewicz, Joanna Waligórska-Stachura, Piotr Białas, Tomasz Krauze, Przemysław Guzik, Jerzy Skrobisz, Marek Ruchała
BACKGROUND: Irisin is a new adipo-myokine, encoded by the FNDC5 gene. Currently, there is a discussion regarding the relation between thyroid function and irisin concentration. This prospective study assesses the influence of thyrometabolic changes on serum irisin concentration in association with altered muscle metabolism. This is performed on a large cohort of patients affected by severe hypo- or hyperthyroidism, as well as by the expression of the FNDC5 gene in thyroid tissue affected by different pathologies...
December 2, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29194514/mouse-models-of-two-missense-mutations-in-actin-binding-domain-1-of-dystrophin-associated-with-duchenne-or-becker-muscular-dystrophy
#8
Jackie L McCourt, Dana M Talsness, Angus Lindsay, Robert W Arpke, Paul D Chatterton, D'anna M Nelson, Christopher M Chamberlain, John T Olthoff, Joseph J Belanto, Preston M McCourt, Michael Kyba, Dawn A Lowe, James M Ervasti
Missense mutations in the dystrophin protein can cause Duchenne (DMD) or Becker (BMD) muscular dystrophy through an undefined pathomechanism. In vitro studies suggest that missense mutations in the N-terminal actin binding domain (ABD1) cause protein instability, and cultured myoblast studies reveal decreased expression levels that can be restored to wild type with proteasome inhibitors. To further elucidate the pathophysiology of missense dystrophin in vivo, we generated two transgenic mdx mouse lines expressing L54R or L172H mutant dystrophin, which correspond to missense mutations identified in human patients with DMD or BMD, respectively...
November 28, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29194448/interleukin-1beta-il-1%C3%AE-induced-notch-ligand-jagged1-suppresses-mitogenic-action-of-il-1%C3%AE-on-human-dystrophic-myogenic-cells
#9
Yuki Nagata, Tohru Kiyono, Kikuo Okamura, Yu-Ichi Goto, Masafumi Matsuo, Madoka Ikemoto-Uezumi, Naohiro Hashimoto
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive muscle disorder caused by mutations in the dystrophin gene. Nonetheless, secondary processes involving perturbation of muscle regeneration probably exacerbate disease progression, resulting in the fatal loss of muscle in DMD patients. A dysfunction of undifferentiated myogenic cells is the most likely cause for the reduction of regenerative capacity of muscle. To clarify molecular mechanisms in perturbation of the regenerative capacity of DMD muscle, we have established several NCAM (CD56)-positive immortalized human dystrophic and non-dystrophic myogenic cell lines from DMD and healthy muscles...
2017: PloS One
https://www.readbyqxmd.com/read/29188604/-analysis-of-12-patients-with-novel-mutations-of-dystrophin-gene
#10
Xiaoxin Xu, Yang Liu, Yuchun Pan, Zhiyong Xu, Qin Wang, Jiangsheng Xie
OBJECTIVE: To study the characteristics, location, and amino acid changes of novel mutations of the Dystrophin gene. METHODS: Twelve patients in whom no deletion or duplication of the Dystrophin gene was detected were analyzed with next-generation sequencing. Fifty healthy adult males were recruited as the controls. RESULTS: All patients were detected with mutations of the Dystrophin gene, which included c.33C>G, c.583C>T, c.1333C>T, c...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29188128/influenza-a-virus-infection-damages-zebrafish-skeletal-muscle-and-exacerbates-disease-in-zebrafish-modeling-duchenne-muscular-dystrophy
#11
Michelle Goody, Denise Jurczyszak, Carol Kim, Clarissa Henry
INTRODUCTION: Both genetic and infectious diseases can result in skeletal muscle degeneration, inflammation, pain, and/or weakness. Duchenne muscular dystrophy (DMD) is the most common congenital muscle disease. DMD causes progressive muscle wasting due to mutations in Dystrophin. Influenza A and B viruses are frequently associated with muscle complications, especially in children. Infections activate an immune response and immunosuppressant drugs reduce DMD symptoms. These data suggest that the immune system may contribute to muscle pathology...
October 25, 2017: PLoS Currents
https://www.readbyqxmd.com/read/29187645/single-cut-genome-editing-restores-dystrophin-expression-in-a-new-mouse-model-of-muscular-dystrophy
#12
Leonela Amoasii, Chengzu Long, Hui Li, Alex A Mireault, John M Shelton, Efrain Sanchez-Ortiz, John R McAnally, Samadrita Bhattacharyya, Florian Schmidt, Dirk Grimm, Stephen D Hauschka, Rhonda Bassel-Duby, Eric N Olson
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle disease caused by mutations in the dystrophin gene. The majority of DMD mutations are deletions that prematurely terminate the dystrophin protein. Deletions of exon 50 of the dystrophin gene are among the most common single exon deletions causing DMD. Such mutations can be corrected by skipping exon 51, thereby restoring the dystrophin reading frame. Using clustered regularly interspaced short palindromic repeats/CRISPR-associated 9 (CRISPR/Cas9), we generated a DMD mouse model by deleting exon 50...
November 29, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29187535/transient-receptor-potential-channel-6-regulates-abnormal-cardiac-s-nitrosylation-in-duchenne-muscular-dystrophy
#13
Heaseung Sophia Chung, Grace E Kim, Ronald J Holewinski, Vidya Venkatraman, Guangshuo Zhu, Djahida Bedja, David A Kass, Jennifer E Van Eyk
Duchenne muscular dystrophy (DMD) is an X-linked disorder with dystrophin loss that results in skeletal and cardiac muscle weakening and early death. Loss of the dystrophin-sarcoglycan complex delocalizes nitric oxide synthase (NOS) to alter its signaling, and augments mechanosensitive intracellular Ca2+ influx. The latter has been coupled to hyperactivation of the nonselective cation channel, transient receptor potential canonical channel 6 (Trpc6), in isolated myocytes. As Ca2+ also activates NOS, we hypothesized that Trpc6 would help to mediate nitric oxide (NO) dysregulation and that this would be manifest in increased myocardial S-nitrosylation, a posttranslational modification increasingly implicated in neurodegenerative, inflammatory, and muscle disease...
November 29, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29173172/therapeutic-applications-of-crispr-cas-for-duchenne-muscular-dystrophy
#14
Tatianna Wai Ying Wong, Ronald D Cohn
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by the lack of dystrophin due to mutations in the DMD gene. Since dystrophin is essential in maintaining the integrity of the sarcolemmal membrane, the absence of the protein leads to muscle damage and DMD disease manifestation. Currently there is no cure with only symptomatic management available. OBJECTIVE: The most recent advancements in DMD therapies do not provide a permanent treatment for DMD...
November 21, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29167533/muscle-mri-and-functional-outcome-measures-in-becker-muscular-dystrophy
#15
Andrea Barp, Luca Bello, Luca Caumo, Paola Campadello, Claudio Semplicini, Annalisa Lazzarotto, Gianni Sorarù, Chiara Calore, Alessandro Rampado, Raffaella Motta, Roberto Stramare, Elena Pegoraro
Becker muscular dystrophy (BMD) is a neuromuscular disorder allelic to Duchenne muscular dystrophy (DMD), caused by in-frame mutations in the dystrophin gene, and characterized by a clinical progression that is both milder and more heterogeneous than DMD. Muscle magnetic resonance imaging (MRI) has been proposed as biomarker of disease progression in dystrophinopathies. Correlation with clinically meaningful outcome measures such as North Star Ambulatory Assessment (NSAA) and 6 minute walk test (6MWT) is paramount for biomarker qualification...
November 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29157305/evaluation-of-the-effect-of-a-floxed-neo-cassette-within-the-dystroglycan-dag1-gene
#16
Francesca Sciandra, Bianca Maria Scicchitano, Giulia Signorino, Maria Giulia Bigotti, Barbara Tavazzi, Francesca Lombardi, Manuela Bozzi, Gigliola Sica, Bruno Giardina, Sandra Blaess, Andrea Brancaccio
OBJECTIVE: Dystroglycan (DG) is an adhesion complex formed by two subunits, α-DG and β-DG. In skeletal muscle, DG is part of the dystrophin-glycoprotein complex that is crucial for sarcolemma stability and it is involved in a plethora of muscular dystrophy phenotypes. Due to the important role played by DG in skeletal muscle stability as well as in a wide variety of other tissues including brain and the peripheral nervous system, it is essential to investigate its genetic assembly and transcriptional regulation...
November 21, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29130550/-1-h-nmrs-of-carnosine-combined-with-31-p-nmrs-to-better-characterize-skeletal-muscle-ph-dysregulation-in-duchenne-muscular-dystrophy
#17
Harmen Reyngoudt, Suna Turk, Pierre G Carlier
In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD). Whereas most of these studies have emphasized the evaluation of the fat fraction as an assessment for disease severity, less focus has been placed on metabolic indices measured by NMRS. (31) P NMRS in DMD reveals an alkaline inorganic phosphate (Pi ) pool, originating from either leaky dystrophic myocytes or an increased interstitial space...
November 12, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/29129153/skin-biopsy-for-diagnosis-of-ullrich-congenital-muscular-dystrophy-an-observational-study
#18
Biswaroop Chakrabarty, M C Sharma, Sheffali Gulati, Chitra Sarkar
The gold standard diagnostic test for Ullrich congenital muscular dystrophy (UCMD) is molecular testing for COL6 mutation. The facility for genetic testing is sparingly available and it is usually diagnosed by muscle biopsy. The latter is an invasive procedure requiring expertise and sedation. Skin biopsy has shown promise as a simpler diagnostic modality. Eleven and 7 cases, respectively, of phenotypically suspected Ullrich congenital muscular dystrophy and dystrophinopathy underwent simultaneous skin and muscle biopsies, which were subjected to hematoxylin and eosin (H&E) and immunohistochemistry staining for collagen VI and dystrophin 1, 2, and 3...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29127875/derivation-of-the-duchenne-muscular-dystrophy-patient-derived-induced-pluripotent-stem-cell-line-lacking-dmd-exons-49-and-50-ccmi001dmd-a-3-%C3%A2-49-%C3%A2-50
#19
Gabriella Spaltro, Vera Vigorelli, Federica Casalnuovo, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Patrizia Nigro, Cristina Gervasini, Giulio Pompilio, Aoife Gowran
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal...
October 28, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29103911/cyclic-peptides-to-improve-delivery-and-exon-skipping-of-antisense-oligonucleotides-in-a-mouse-model-for-duchenne-muscular-dystrophy
#20
Silvana M G Jirka, Peter A C 't Hoen, Valeriano Diaz Parillas, Christa L Tanganyika-de Winter, Ruurd C Verheul, Begona Aguilera, Peter C de Visser, Annemieke M Aartsma-Rus
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle wasting disorder caused by reading frame disrupting mutations in the DMD gene. Exon skipping is a therapeutic approach for DMD. It employs antisense oligonucleotides (AONs) to restore the disrupted open reading frame, allowing the production of shorter, but partly functional dystrophin protein as seen in less severely affected Becker muscular dystrophy patients. To be effective, AONs need to be delivered and effectively taken up by the target cells, which can be accomplished by the conjugation of tissue-homing peptides...
October 12, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
keyword
keyword
27458
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"