Results 61 to 70 of about 59,671 (341)

Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches

Journal of Personalized Medicine, 2019
Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by progressive muscle weakness, is caused by the absence or a decreased amount of the muscle cytoskeletal protein dystrophin.
Y. Shimizu-Motohashi, H. Komaki, N. Motohashi, S. Takeda, T. Yokota, Y. Aoki   +5 more
semanticscholar   +1 more source

Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura, Musaro', Antonio, Nicoletti, Carmine, Pelosi, Laura, Scicchitano, Bianca Maria   +4 more
core   +3 more sources

Perspective: Spectrin-Like Repeats in Dystrophin Have Unique Binding Preferences for Syntrophin Adaptors That Explain the Mystery of How nNOSμ Localizes to the Sarcolemma

Frontiers in Physiology, 2018
Dystrophin is a massive multi-domain protein composed of specialized amino and carboxyl termini that are separated by 24 spectrin-like repeats. Dystrophin performs critical structural and signaling roles that are indispensable for the functional ...
Justin M. Percival
doaj   +1 more source

When Size Really Matters: The Eccentricities of Dystrophin Transcription and the Hazards of Quantifying mRNA from Very Long Genes

Biomedicines, 2023
At 2.3 megabases in length, the dystrophin gene is enormous: transcription of a single mRNA requires approximately 16 h. Principally expressed in skeletal muscle, the dystrophin protein product protects the muscle sarcolemma against contraction-induced ...
John C. W. Hildyard, Richard J. Piercy
doaj   +1 more source

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Scientific Reports, 2017
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders.
N. Doorenweerd, A. Mahfouz, M. van Putten, R. Kaliyaperumal, P. A. '. ‘t Hoen, J. Hendriksen, A. Aartsma-Rus, J. Verschuuren, E. Niks, M. Reinders, H. Kan, B. Lelieveldt   +11 more
semanticscholar   +1 more source

The interaction of actin with dystrophin

FEBS Letters, 1990
Proton NMR spectroscopy of synthetic peptides corresponding to defined regions of human dystrophin has been employed to study the interaction with F‐actin. No evidence of interaction with a C‐terminal region corresponding to amino acid residues 3429–3440 was obtained.
Barry A. Levine, Arthur J. G. Moir, Valerie B. Patchell, S. V. Perry   +3 more
openaire   +3 more sources

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy

PLoS ONE, 2018
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by progressive weakness of the skeletal and cardiac muscles. This X-linked disorder is caused by open reading frame disrupting mutations in the DMD gene, resulting in strong ...
C. Beekman, A. Janson, A. Baghat, J. V. van Deutekom, N. Datson   +4 more
semanticscholar   +1 more source

Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model

Scientific Reports, 2021
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD.
Gerard A. Marchal, Maaike van Putten, Arie O. Verkerk, Simona Casini, Kayleigh Putker, Shirley C. M. van Amersfoorth, Annemieke Aartsma-Rus, Elisabeth M. Lodder, Carol Ann Remme   +8 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

Promising therapeutic approaches of utrophin replacing dystrophin in the treatment of Duchenne muscular dystrophy

Fundamental Research, 2022
Duchenne muscular dystrophy (DMD) is a serious genetic neuromuscular rare disease that is prevalent and caused by the mutation/deletion of the X-linked DMD gene that encodes dystrophin.
Ruo Wu, Yafeng Song, Shiwen Wu, Yongchang Chen   +3 more
doaj   +1 more source