Macrophages in skeletal muscle dystrophies, an entangled partner

M Theret, M Saclier, G Messina… - Journal of …, 2022 - journals.sagepub.com
While skeletal muscle remodeling happens throughout life, diseases that result in its
dysfunction are accountable for many deaths. Indeed, skeletal muscle is exceptionally …

Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease

J Gambardella, A Fiordelisi, FA Cerasuolo… - Iscience, 2023 - cell.com
Skeletal muscle (SM) pain and fatigue are common in Fabry disease (FD). Here, we
undertook the investigation of the energetic mechanisms related to FD-SM phenotype. A …

Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy

F Amor, A Vu Hong, G Corre, M Sanson… - Journal of cachexia …, 2021 - Wiley Online Library
Background Duchenne muscular dystrophy (DMD) is a lethal muscle disease detected in
approximately 1: 5000 male births. DMD is caused by mutations in the DMD gene, encoding …

Cholesterol absorption blocker ezetimibe prevents muscle wasting in severe dysferlin‐deficient and mdx mice

Z White, M Theret, N Milad, LW Tung… - Journal of Cachexia …, 2022 - Wiley Online Library
Background Muscular dystrophy (MD) causes muscle wasting and is often lethal in patients
due to a lack of proven therapies. In contrast, mouse models of MD are notoriously mild. We …

Dyslipidemia in muscular dystrophy: A systematic review and meta-analysis

Z Sun, X Wang, Z White, C Dormuth… - Journal of …, 2023 - content.iospress.com
Background: Muscular dystrophies (MDs) are characterized by chronic muscle wasting but
also poorly understood metabolic co-morbidities. We have recently shown that Duchenne …

miR-378 affects metabolic disturbances in the mdx model of Duchenne muscular dystrophy

P Podkalicka, O Mucha, K Kaziród, K Szade… - Scientific Reports, 2022 - nature.com
Although Duchenne muscular dystrophy (DMD) primarily affects muscle tissues, the
alterations to systemic metabolism manifested in DMD patients contribute to the severe …

Magnetic resonance quantification of skeletal muscle lipid infiltration in a humanized mouse model of Duchenne muscular dystrophy

RB Khattri, A Batra, M Matheny, C Hart… - NMR in …, 2023 - Wiley Online Library
Rodent models of Duchenne muscular dystrophy (DMD) often do not recapitulate the
severity of muscle wasting and resultant fibro‐fatty infiltration observed in DMD patients …

Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice

Z White, Z Sun, E Sauge, D Cox, G Donen… - Skeletal Muscle, 2022 - Springer
Limb-girdle muscular dystrophy (MD) type 2B (LGMD2B) and Duchenne MD (DMD) are
caused by mutations to the Dysferlin and Dystrophin genes, respectively. We have recently …

In vitro assessment of anti-fibrotic drug activity does not predict in vivo efficacy in murine models of Duchenne muscular dystrophy

M Theret, M Low, L Rempel, FF Li, LW Tung… - Life Sciences, 2021 - Elsevier
Aim Fibrosis is the most common complication from chronic diseases, and yet no therapy
capable of mitigating its effects is available. Our goal is to unveil specific signaling regulating …

Comparative lipidomic and metabolomic profiling of mdx and severe mdx-apolipoprotein e-null mice

RB Khattri, A Batra, Z White, D Hammers, TE Ryan… - Skeletal Muscle, 2024 - Springer
Despite its notoriously mild phenotype, the dystrophin-deficient mdx mouse is the most
common model of Duchenne muscular dystrophy (DMD). By mimicking a human DMD …