Challenges associated with homologous directed repair using CRISPR-Cas9 and TALEN to edit the DMD genetic mutation in canine Duchenne muscular dystrophy

S Mata López, C Balog-Alvarez, S Vitha, AK Bettis… - PloS one, 2020 - journals.plos.org
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that abolish
the expression of dystrophin protein. Dogs with the genetic homologue, golden retriever …

[PDF][PDF] Diverse effector and regulatory functions of fibro/adipogenic progenitors during skeletal muscle fibrosis in muscular dystrophy

X Wang, J Chen, ST Homma, Y Wang, GR Smith… - Iscience, 2023 - cell.com
Fibrosis is a prominent pathological feature of skeletal muscle in Duchenne muscular
dystrophy (DMD). The commonly used disease mouse model, mdx 5cv, displays progressive …

Proteomic identification of markers of membrane repair, regeneration and fibrosis in the aged and dystrophic diaphragm

S Gargan, P Dowling, M Zweyer, M Henry, P Meleady… - Life, 2022 - mdpi.com
Deficiency in the membrane cytoskeletal protein dystrophin is the underlying cause of the
progressive muscle wasting disease named Duchenne muscular dystrophy. In order to …

Myostatin and activin blockade by engineered follistatin results in hypertrophy and improves dystrophic pathology in mdx mouse more than myostatin blockade alone

A Iskenderian, N Liu, Q Deng, Y Huang, C Shen… - Skeletal Muscle, 2018 - Springer
Background Myostatin antagonists are being developed as therapies for Duchenne
muscular dystrophy due to their strong hypertrophic effects on skeletal muscle. Engineered …

ActRIIB: ALK4-Fc alleviates muscle dysfunction and comorbidities in murine models of neuromuscular disorders

J Li, M Fredericks, M Cannell, K Wang… - The Journal of …, 2021 - Am Soc Clin Investig
Patients with neuromuscular disorders suffer from a lack of treatment options for skeletal
muscle weakness and disease comorbidities. Here, we introduce as a potential therapeutic …

Mechanically patterned neuromuscular junctions-in-a-dish have improved functional maturation

CL Happe, KP Tenerelli, AK Gromova… - Molecular biology of …, 2017 - Am Soc Cell Biol
Motor neuron (MN) diseases are progressive disorders resulting from degeneration of
neuromuscular junctions (NMJs), which form the connection between MNs and muscle …

[HTML][HTML] Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

E Mercuri, AM Seferian, L Servais, N Deconinck… - Neuromuscular …, 2023 - Elsevier
Eteplirsen is FDA-approved for the treatment of Duchenne muscular dystrophy (DMD) in
exon 51 skip-amenable patients. Previous studies in boys> 4 years of age indicate …

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 …

Calcium handling dysfunction and cardiac damage following acute ventricular preload challenge in the dystrophin-deficient mouse heart

V Haffner, Z Nourian, EM Boerman… - American Journal …, 2023 - journals.physiology.org
Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and is
caused by mutations in the dystrophin gene. Dystrophin deficiency is associated with …

RhoA/ROCK2 signalling is enhanced by PDGF‐AA in fibro‐adipogenic progenitor cells: implications for Duchenne muscular dystrophy

E Fernández‐Simón, X Suárez‐Calvet… - Journal of Cachexia …, 2022 - Wiley Online Library
Background The lack of dystrophin expression in Duchenne muscular dystrophy (DMD)
induces muscle fibre and replacement by fibro‐adipose tissue. Although the role of some …