Duchenne muscular dystrophy

D Duan, N Goemans, S Takeda, E Mercuri… - Nature Reviews …, 2021 - nature.com
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads
to difficulties with movement and, eventually, to the need for assisted ventilation and …

Molecular and cellular basis of genetically inherited skeletal muscle disorders

JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Detyrosinated microtubule arrays drive myofibrillar malformations in mdx muscle fibers

AD Harriot, T Altair Morris, C Vanegas… - Frontiers in Cell and …, 2023 - frontiersin.org
Altered myofibrillar structure is a consequence of dystrophic pathology that impairs skeletal
muscle contractile function and increases susceptibility to contraction injury. In murine …

Dystrophin-and utrophin-based therapeutic approaches for treatment of duchenne muscular dystrophy: a comparative review

S Szwec, Z Kapłucha, JS Chamberlain, P Konieczny - BioDrugs, 2024 - Springer
Duchenne muscular dystrophy is a devastating disease that leads to progressive muscle
loss and premature death. While medical management focuses mostly on symptomatic …

[HTML][HTML] Matrix mechanics regulates muscle regeneration by modulating kinesin-1 activity

WY Chiang, HW Yu, MC Wu, YM Huang, YQ Chen… - Biomaterials, 2024 - Elsevier
Sarcopenia, a prevalent muscle disease characterized by muscle mass and strength
reduction, is associated with impaired skeletal muscle regeneration. However, the influence …

A review on mechanistic insights into structure and function of dystrophin protein in pathophysiology and therapeutic targeting of Duchenne muscular dystrophy

AM Elasbali, WA Al-Soud, S Anwar… - International Journal of …, 2024 - Elsevier
Abstract Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disorder
characterized by progressive and severe muscle weakening and degeneration. Among the …

Eccentric contraction increases hydrogen peroxide levels and alters gene expression through Nox2 in skeletal muscle of male mice

R Kano, T Kusano, R Takeda… - Journal of Applied …, 2024 - journals.physiology.org
Hydrogen peroxide (H2O2) is one of the key signaling factors regulating skeletal muscle
adaptation to muscle contractions. Eccentric (ECC) and concentric (CONC) contractions …

A Novel MAO-B/SSAO Inhibitor Improves Multiple Aspects of Dystrophic Phenotype in mdx Mice

F Gasparella, L Nogara, E Germinario, L Tibaudo… - Antioxidants, 2024 - mdpi.com
Duchenne muscular dystrophy (DMD) is one of the most frequent and severe childhood
muscle diseases. Its pathophysiology is multifaceted and still incompletely understood, but …

Effects of NADPH Oxidase Isoform-2 (NOX2) Inhibition on Behavioral Responses and Neuroinflammation in a Mouse Model of Neuropathic Pain

L Teixeira-Santos, E Veríssimo, S Martins, T Sousa… - Biomedicines, 2023 - mdpi.com
NADPH oxidase isoform-2 (NOX2) has been implicated in the pathophysiology of
neuropathic pain (NP), mostly through the modulation of neuroinflammation. Since it is also …

Gene deletion of γ‐actin impairs insulin‐stimulated skeletal muscle glucose uptake in growing mice but not in mature adult mice

JR Knudsen, AB Madsen, Z Li… - Physiological …, 2022 - Wiley Online Library
The cortical cytoskeleton, consisting of the cytoplasmic actin isoforms β and/or γ‐actin, has
been implicated in insulin‐stimulated GLUT4 translocation and glucose uptake in muscle …