Developing DMD therapeutics: a review of the effectiveness of small molecules, stop-codon readthrough, dystrophin gene replacement, and exon-skipping therapies

O Sheikh, T Yokota - Expert opinion on investigational drugs, 2021 - Taylor & Francis
Introduction Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused
by mutations in the dystrophin (DMD) gene. Most patients die from respiratory failure or …

All muscle satellite cells are equal, but are some more equal than others?

PS Zammit - Journal of cell science, 2008 - journals.biologists.com
Skeletal muscle is an accessible adult stem-cell model in which differentiated myofibres are
maintained and repaired by a self-renewing stem-cell compartment. These resident stem …

Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice

N Jearawiriyapaisarn, HM Moulton, B Buckley… - Molecular Therapy, 2008 - cell.com
Cell-penetrating peptides (CPPs), containing arginine (R), 6-aminohexanoic acid (X), and/or
β-alanine (B) conjugated to phosphorodiamidate morpholino oligomers (PMOs), enhance …

Histone deacetylases: Molecular mechanisms and therapeutic implications for muscular dystrophies

M Sandonà, G Cavioli, A Renzini, A Cedola… - International Journal of …, 2023 - mdpi.com
Histone deacetylases (HDACs) are enzymes that regulate the deacetylation of numerous
histone and non-histone proteins, thereby affecting a wide range of cellular processes …

Muscle diseases: the muscular dystrophies

EM McNally, P Pytel - Annu. Rev. Pathol. Mech. Dis., 2007 - annualreviews.org
Dystrophic muscle disease can occur at any age. Early-or childhood-onset muscular
dystrophies may be associated with profound loss of muscle function, affecting ambulation …

Effects of in vivo injury on the neuromuscular junction in healthy and dystrophic muscles

SJP Pratt, SB Shah, CW Ward, MP Inacio… - The Journal of …, 2013 - Wiley Online Library
Key points• Strength loss induced by lengthening contractions is typically attributed to
damaged force‐bearing structures within skeletal muscle. Muscle lacking the structural …

Pre-and postsynaptic changes in the neuromuscular junction in dystrophic mice

SJP Pratt, AP Valencia, GK Le, SB Shah… - Frontiers in …, 2015 - frontiersin.org
Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease in which
weakness, increased susceptibility to muscle injury, and inadequate repair appear to …

The validity of the International Physical Activity Questionnaire (IPAQ) for adults with progressive muscle diseases

SF Roberts-Lewis, CM White, M Ashworth… - Disability and …, 2022 - Taylor & Francis
Purpose Measuring the physical activity of adults with progressive muscle diseases is
important to inform clinical practice, for activity recommendations and for outcomes …

Therapeutic implications of miRNAs for muscle-wasting conditions

L Yedigaryan, M Sampaolesi - Cells, 2021 - mdpi.com
MicroRNAs (miRNAs) are small, non-coding RNA molecules that are mainly involved in
translational repression by binding to specific messenger RNAs. Recently, miRNAs have …

Recovery of altered neuromuscular junction morphology and muscle function in mdx mice after injury

SJP Pratt, SB Shah, CW Ward, JP Kerr… - Cellular and Molecular …, 2015 - Springer
Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease in which
weakness, increased susceptibility to muscle injury, and inadequate repair underlie the …