[HTML][HTML] Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?

S Kourakis, CA Timpani, DG Campelj, P Hafner… - Orphanet Journal of …, 2021 - Springer
Background Pharmacological corticosteroid therapy is the standard of care in Duchenne
Muscular Dystrophy (DMD) that aims to control symptoms and slow disease progression …

[HTML][HTML] Targeting Nrf2 for the treatment of Duchenne muscular dystrophy

S Kourakis, CA Timpani, JB de Haan, N Gueven… - Redox biology, 2021 - Elsevier
Imbalances in redox homeostasis can result in oxidative stress, which is implicated in
various pathological conditions including the fatal neuromuscular disease Duchenne …

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

A Moretti, L Fonteyne, F Giesert, P Hoppmann… - Nature medicine, 2020 - nature.com
Frameshift mutations in the DMD gene, encoding dystrophin, cause Duchenne muscular
dystrophy (DMD), leading to terminal muscle and heart failure in patients. Somatic gene …

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

M Chesshyre, D Ridout, Y Hashimoto… - Journal of Cachexia …, 2022 - Wiley Online Library
Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to
dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle …

[HTML][HTML] Inhibiting the inflammasome with MCC950 counteracts muscle pyroptosis and improves Duchenne muscular dystrophy

N Dubuisson, MA Davis-López de Carrizosa… - Frontiers in …, 2022 - frontiersin.org
Background Duchenne muscular dystrophy (DMD) is the most common inherited human
myopathy. Typically, the secondary process involving severe inflammation and necrosis …

AdipoRon, a new therapeutic prospect for Duchenne muscular dystrophy

M Abou‐Samra, CM Selvais… - Journal of cachexia …, 2020 - Wiley Online Library
Abstract Background Adiponectin (ApN) is a hormone known to exhibit insulin‐sensitizing,
fat‐burning, and anti‐inflammatory properties in several tissues, including the skeletal …

[HTML][HTML] De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

K König, A Pechmann, S Thiele, MC Walter… - Orphanet journal of rare …, 2019 - Springer
Background Estimation of incidence in rare diseases is often challenging due to unspecific
and incomplete coding and recording systems. Patient-and health care provider-driven data …

[HTML][HTML] Isolation and Characterization of Primary DMD Pig Muscle Cells as an In Vitro Model for Preclinical Research on Duchenne Muscular Dystrophy

T Donandt, S Hintze, S Krause, E Wolf, B Schoser… - Life, 2022 - mdpi.com
Duchenne muscular dystrophy (DMD) is the most frequent genetic myopathy in childhood
and leads to progressive muscle atrophy, weakness, and premature death. So far, there is …

[HTML][HTML] Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China

L Kong, S Li, Z Zhao, J Feng, G Chen, L Liu… - Frontiers in …, 2021 - frontiersin.org
Noninvasive prenatal diagnosis (NIPD) of single-gene disorders has recently become the
focus of clinical laboratories. However, reports on the clinical application of NIPD of …

Aldehyde dehydrogenases contribute to skeletal muscle homeostasis in healthy, aging, and Duchenne muscular dystrophy patients

J Etienne, P Joanne, C Catelain… - Journal of cachexia …, 2020 - Wiley Online Library
Abstract Background Aldehyde dehydrogenases (ALDHs) are key players in cell survival,
protection, and differentiation via the metabolism and detoxification of aldehydes. ALDH …