Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review

M Taniguchi-Ikeda, I Morioka, K Iijima, T Toda - Molecular aspects of …, 2016 - Elsevier
Abstract α-Dystroglycanopathy, an autosomal recessive disease, is associated with the
development of a variety of diseases, including muscular dystrophy. In humans, α …

Skeletal muscle atrophy: disease-induced mechanisms may mask disuse atrophy

CJ Malavaki, GK Sakkas, GI Mitrou, A Kalyva… - Journal of muscle …, 2015 - Springer
Disuse atrophy is the loss of skeletal muscle mass due to inactivity or lower than 'normal'use.
It is not only a furtive component of the 'modern'sedentary lifestyle but also a part of …

Comparison of experimental protocols of physical exercise for mdx mice and Duchenne muscular dystrophy patients

J Hyzewicz, UT Ruegg… - Journal of neuromuscular …, 2015 - content.iospress.com
Abstract Duchenne Muscular Dystrophy (DMD) is caused by mutations in the gene coding
for dystrophin and leads to muscle degeneration, wheelchair dependence and death by …

The clinical development of taldefgrobep alfa: An anti-myostatin adnectin for the treatment of Duchenne muscular dystrophy

F Muntoni, BJ Byrne, HJ McMillan, MM Ryan… - Neurology and …, 2024 - Springer
Introduction Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that
manifests during early childhood and is ultimately fatal. Recently approved treatments …

CRISPR/Cas9-mediated nexilin deficiency interferes with cardiac contractile function in zebrafish in vivo

J Hofeichner, BM Gahr, M Huber, A Boos… - Scientific Reports, 2023 - nature.com
Nexilin (NEXN) plays a crucial role in stabilizing the sarcomeric Z-disk of striated muscle
fibers and, when mutated, leads to dilated cardiomyopathy in humans. Due to its early …

Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations

J Bourke, C Turner, W Bradlow, A Chikermane… - Open …, 2022 - openheart.bmj.com
Objective We provide succinct, evidence-based and/or consensus-based best practice
guidance for the cardiac care of children living with Duchenne muscular dystrophy (DMD) as …

The l-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoids

I Hörster, K Weigt-Usinger, C Carmann… - Amino acids, 2015 - Springer
The l-arginine/nitric oxide (L-Arg/NO) pathway regulates endothelial function and may play
an important role in the pathogenesis of Duchenne muscular dystrophy (DMD). Yet, this …

Autologous intramuscular transplantation of engineered satellite cells induces exosome-mediated systemic expression of Fukutin-related protein and rescues disease …

P Frattini, C Villa, F De Santis… - Human molecular …, 2017 - academic.oup.com
Abstract α-Dystroglycanopathies are a group of muscular dystrophies characterized by α-DG
hypoglycosylation and reduced extracellular ligand-binding affinity. Among other genes …

Myosin binding protein-C slow phosphorylation is altered in duchenne dystrophy and arthrogryposis myopathy in fast-twitch skeletal muscles

MA Ackermann, CW Ward, C Gurnett… - Scientific reports, 2015 - nature.com
Abstract Myosin Binding Protein-C slow (sMyBP-C), encoded by MYBPC1, comprises a
family of regulatory proteins of skeletal muscles that are phosphorylated by PKA and PKC …

Defining ambulation status in patients with Duchenne muscular dystrophy using the 10-metre walk test and the motor function measure scale

DC Petian-Alonso, AC de Castro… - Disability and …, 2023 - Taylor & Francis
Purpose Timed functional tests have been explored to understand the natural history of
Duchenne muscular dystrophy (DMD) and to establish warning signs of loss of gait. This …