Abnormal calcium handling in Duchenne muscular dystrophy: mechanisms and potential therapies

S Mareedu, ED Million, D Duan, GJ Babu - Frontiers in physiology, 2021 - frontiersin.org
Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by the
loss of dystrophin. DMD is associated with muscle degeneration, necrosis, inflammation …

Disrupted calcium homeostasis in duchenne muscular dystrophy: A common mechanism behind diverse consequences

B Zabłocka, DC Górecki, K Zabłocki - International Journal of Molecular …, 2021 - mdpi.com
Duchenne muscular dystrophy (DMD) leads to disability and death in young men. This
disease is caused by mutations in the DMD gene encoding diverse isoforms of dystrophin …

Complexity of skeletal muscle degeneration: Multi-systems pathophysiology and organ crosstalk in dystrophinopathy

K Ohlendieck, D Swandulla - Pflügers Archiv-European Journal of …, 2021 - Springer
Duchenne muscular dystrophy is a highly progressive muscle wasting disorder due to
primary abnormalities in one of the largest genes in the human genome, the DMD gene …

The dystrophin node as integrator of cytoskeletal organization, lateral force transmission, fiber stability and cellular signaling in skeletal muscle

P Dowling, S Gargan, S Murphy, M Zweyer, H Sabir… - Proteomes, 2021 - mdpi.com
The systematic bioanalytical characterization of the protein product of the DMD gene, which
is defective in the pediatric disorder Duchenne muscular dystrophy, led to the discovery of …

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

V Gupta, G Kawahara, SR Gundry… - Human Molecular …, 2011 - academic.oup.com
In a forward genetic approach to identify novel genes for congenital muscle diseases, a
zebrafish mutant, designated patchytail, was identified that exhibits degenerating muscle …

Branched fibres in old dystrophic mdx muscle are associated with mechanical weakening of the sarcolemma, abnormal Ca2+ transients and a breakdown of Ca2+ …

SI Head - Experimental Physiology, 2010 - Wiley Online Library
In the dystrophinopathies, skeletal muscle fibres undergo cycles of degeneration and
regeneration, with regenerated fibres displaying a branched morphology. This study tests …

Cardiac involvement in dystrophin-deficient females: current understanding and implications for the treatment of dystrophinopathies

KRQ Lim, N Sheri, Q Nguyen, T Yokota - Genes, 2020 - mdpi.com
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused
primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with …

Subcellular localization and mechanism of secretion of vascular endothelial growth factor in human skeletal muscle

B Hoier, C Prats, K Qvortrup, H Pilegaard… - The FASEB …, 2013 - Wiley Online Library
The subcellular distribution and secretion of vascular endothelial growth factor (VEGF) was
examined in skeletal muscle of healthy humans. Skeletal muscle biopsies were obtained …

[HTML][HTML] Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy

ME De Stefano, V Ferretti, C Mozzetta - Neurobiology of Disease, 2022 - Elsevier
Dystrophinopaties, eg, Duchenne muscular dystrophy (DMD), Becker muscular dystrophy
and X-linked dilated cardiomyopathy are inherited neuromuscular diseases, characterized …

Microarchitecture is severely compromised but motor protein function is preserved in dystrophic mdx skeletal muscle

O Friedrich, M Both, C Weber, S Schürmann… - Biophysical journal, 2010 - cell.com
Progressive force loss in Duchenne muscular dystrophy is characterized by degeneration/
regeneration cycles and fibrosis. Disease progression may involve structural remodeling of …