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 …

Myostatin/activin receptor ligands in muscle and the development status of attenuating drugs

BD Rodgers, CW Ward - Endocrine Reviews, 2022 - academic.oup.com
Muscle wasting disease indications are among the most debilitating and often deadly
noncommunicable disease states. As a comorbidity, muscle wasting is associated with …

Sarcoglycanopathies: an update

M Vainzof, LS Souza, J Gurgel-Giannetti… - Neuromuscular Disorders, 2021 - Elsevier
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is …

Therapeutic approaches to preserve the musculature in Duchenne Muscular Dystrophy: The importance of the secondary therapies

G Angelini, G Mura, G Messina - Experimental Cell Research, 2022 - Elsevier
Muscular dystrophies (MDs) are heterogeneous diseases, characterized by primary wasting
of skeletal muscle, which in severe cases, such as Duchenne Muscular Dystrophy (DMD) …

The Role of P2X7 Purinoceptors in the Pathogenesis and Treatment of Muscular Dystrophies

K Zabłocki, DC Górecki - International Journal of Molecular Sciences, 2023 - mdpi.com
Muscular dystrophies are inherited neuromuscular diseases, resulting in progressive
disability and often affecting life expectancy. The most severe, common types are Duchenne …

The role of taurine in skeletal muscle functioning and its potential as a supportive treatment for Duchenne muscular dystrophy

C Merckx, B De Paepe - Metabolites, 2022 - mdpi.com
Taurine (2-aminoethanesulfonic acid) is required for ensuring proper muscle functioning.
Knockout of the taurine transporter in mice results in low taurine concentrations in the …

P2X7 receptor antagonist reduces fibrosis and inflammation in a mouse model of alpha-sarcoglycan muscular dystrophy

L Raffaghello, E Principi, S Baratto, C Panicucci… - Pharmaceuticals, 2022 - mdpi.com
Limb-girdle muscular dystrophy R3, a rare genetic disorder affecting the limb proximal
muscles, is caused by mutations in the α-sarcoglycan gene (Sgca) and aggravated by an …

Determinants of epigenetic resistance to HDAC inhibitors in dystrophic fibro‐adipogenic progenitors

S Consalvi, L Tucciarone, E Macrì, M De Bardi… - EMBO …, 2022 - embopress.org
Pharmacological treatment of Duchenne muscular dystrophy (DMD) with histone
deacetylase inhibitors (HDACi) is currently being tested in clinical trials; however, pre …

Comparative Studies on the Anti-Inflammatory and Apoptotic Activities of Four Greek Essential Oils: Involvement in the Regulation of NF-κΒ and Steroid Receptor …

A Georgantopoulos, A Vougioukas, FD Kalousi… - Life, 2023 - mdpi.com
Essential oils (EOs) are well-known for their anti-fungal, anti-microbial, anti-inflammatory
and relaxing activities. Steroid hormones, especially glucocorticoids, are also well-known for …

T cell responses to dystrophin in a natural history study of Duchenne muscular dystrophy

K Anthony, P Ala, F Catapano, J Meng… - Human Gene …, 2023 - liebertpub.com
Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, but many patients
have rare revertant fibers that express dystrophin. The skeletal muscle pathology of DMD …