Results 41 to 50 of about 23,636 (243)

Myelination is delayed during postnatal brain development in the mdx mouse model of Duchenne muscular dystrophy

BMC Neuroscience, 2017
Background In Duchenne muscular dystrophy (DMD), the loss of the dystrophin component of the dystrophin-glycoprotein complex (DGC) compromises plasma membrane integrity in skeletal muscle, resulting in extensive muscle degeneration. In addition, many DMD
Azeez Aranmolate, Nathaniel Tse, Holly Colognato   +2 more
doaj   +1 more source

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

Scientific Reports, 2021
Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop, Mika T. Westerhausen, Florian Barthelemy, Thomas Lockwood, Nerida Cole, Elizabeth M. Gibbs, Rachelle H. Crosbie, Stanley F. Nelson, M. Carrie Miceli, Philip A. Doble, Jonathan Wanagat   +10 more
doaj   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Dystrophin-Deficient Cardiomyopathy

Journal of the American College of Cardiology, 2016
Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers.
Forum Kamdar, Daniel J. Garry
openaire   +2 more sources

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury. Despite a diverse array of genetic drivers, many NMDs share similar patterns of exercise intolerance and higher concentrations of muscle injury proteins ...
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
wiley   +1 more source

Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice

Nature Communications
Current gene therapy for Duchenne muscular dystrophy (DMD) utilizes adeno-associated virus (AAV) to deliver micro-dystrophin (µDys), which does not provide full protection for striated muscles as it lacks many important functional domains of full-length (
Yuan Zhou, Chen Zhang, Weidong Xiao, Roland W. Herzog, Renzhi Han   +4 more
doaj   +1 more source

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

Life, 2021
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by deficiency in dystrophin, a protein product encoded by the DMD gene. Mitochondrial dysfunction is now attracting much attention as a central player in DMD pathology.
Emma Tabe Eko Niba, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Masakazu Shinohara, Hisahide Nishio, Masafumi Matsuo   +6 more
doaj   +1 more source

In Vivo‐Like Scaffold‐Free 3D In Vitro Models of Muscular Dystrophies: The Case for Anchored Cell Sheet Engineering in Personalized Medicine

Advanced Healthcare Materials, EarlyView.
The scaffold‐free Anchored Cell Sheet Engineering platform is used to create three‐dimensional (3D) in vitro models of skeletal muscle tissue that replicate key features of Duchenne and Myotonic dystrophies. These personalized tissue models, validated by histological, immunostaining, and proteomics analyses, accurately mimic disease phenotypes and ...
Alireza Shahin‐Shamsabadi, John Cappuccitti   +1 more
wiley   +1 more source

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. [PDF]

PLoS ONE, 2018
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 ...
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni   +9 more
doaj   +1 more source

Polyplex Nanomicelle‐Mediated Pgc‐1α4 mRNA Delivery Via Hydrodynamic Limb Vein Injection Enhances Damage Resistance in Duchenne Muscular Dystrophy Mice

Advanced Science, EarlyView.
This study presents a novel approach for treating Duchenne muscular dystrophy using mRNA encoding PGC‐1α4. Nanomicelle‐delivered Pgc‐1α4 mRNA enhances muscle damage resistance and mitochondrial activity in dystrophic muscles. This study demonstrates the potential of mRNA therapy for neuromuscular diseases like Duchenne muscular dystrophy and highlights
Xuan Du, Hideyuki Nakanishi, Takashi Yamada, Yooksil Sin, Katsura Minegishi, Norio Motohashi, Yoshitsugu Aoki, Keiji Itaka   +7 more
wiley   +1 more source