Breathing in Duchenne muscular dystrophy: Translation to therapy

DZ Mhandire, DP Burns, AL Roger… - The Journal of …, 2022 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is an X‐linked neuromuscular disease caused by a
deficiency in dystrophin–a structural protein which stabilises muscle during contraction …

Progressive skeletal muscle atrophy in muscular dystrophies: a role for toll-like receptor-signaling in disease pathogenesis

B De Paepe - International Journal of Molecular Sciences, 2020 - mdpi.com
Muscle atrophy is an active process controlled by specific transcriptional programs, in which
muscle mass is lost by increased protein degradation and/or decreased protein synthesis …

Diaphragm muscle fibrosis involves changes in collagen organization with mechanical implications in Duchenne muscular dystrophy

R Sahani, CH Wallace, BK Jones… - Journal of Applied …, 2022 - journals.physiology.org
In Duchenne muscular dystrophy (DMD), diaphragm muscle dysfunction results in
respiratory insufficiency, a leading cause of death in patients. Increased muscle stiffness …

A user-friendly approach for routine histopathological and morphometric analysis of skeletal muscle using cellprofiler software

V Laghi, V Ricci, F De Santa, A Torcinaro - Diagnostics, 2022 - mdpi.com
Adult skeletal muscle is capable of active and efficient differentiation in the event of injury in
both physiological and pathological conditions, such as in Duchenne muscular dystrophy …

Impact of estrogen deficiency on diaphragm and leg muscle contractile function in female mdx mice

P Vang, CW Baumann, R Barok, AA Larson… - Plos one, 2021 - journals.plos.org
Female carriers of Duchenne muscular dystrophy (DMD) presenting with DMD
symptomology similar to males with DMD, such as skeletal muscle weakness and …

Ultrasonography validation for early alteration of diaphragm echodensity and function in the mdx mouse model of Duchenne muscular dystrophy

A Mele, P Mantuano, A Fonzino, F Rana… - PloS One, 2021 - journals.plos.org
The mdx mouse model of Duchenne muscular dystrophy is characterized by functional and
structural alterations of the diaphragm since early stages of pathology, closely resembling …

It's more than the amount that counts: implications of collagen organization on passive muscle tissue properties revealed with micromechanical models and …

R Sahani, K Hixson… - Journal of the Royal …, 2024 - royalsocietypublishing.org
Collagen accumulation is often used to characterize skeletal muscle fibrosis, but the role of
collagen in passive muscle mechanics remains debated. Here we combined finite-element …

Mechanics of dystrophin deficient skeletal muscles in very young mice and effects of age

MA Lopez, S Bontiff, M Adeyeye… - … of Physiology-Cell …, 2021 - journals.physiology.org
The MDX mouse is an animal model of Duchenne muscular dystrophy, a human disease
marked by an absence of the cytoskeletal protein, dystrophin. We hypothesized that 1) …

Trilobatin contributes to the improvement of myopathy in a mouse model of Duchenne muscular dystrophy

TA Hermes, P Fratini, BG Nascimento… - International Journal …, 2024 - Wiley Online Library
Duchenne muscular dystrophy (DMD) occurs due to genetic mutations that lead to a
deficiency in dystrophin production and consequent progressive degeneration of skeletal …

Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy

F Trucco, M Davies, AA Zambon, D Ridout, F Abel… - Thorax, 2024 - thorax.bmj.com
Background Diaphragmatic sleep disordered breathing (dSDB) has been recently identified
as sleep dysfunction secondary to diaphragmatic weakness in Duchenne muscular …