Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Neurology, 2020 Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping.
D. Frank +14 more
semanticscholar +1 more source
How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse [PDF]
, 2015 Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to ...
Betts, C +13 more
core +2 more sources
LncRNA H19 Alleviates Muscular Dystrophy Through Stabilizing Dystrophin
Nature Cell Biology, 2020 Dystrophin proteomic regulation in muscular dystrophies (MDs) remains unclear. We report that a long noncoding RNA (lncRNA), H19, associates with dystrophin and inhibits E3-ligase-dependent polyubiquitination at Lys 3584 (referred to as Ub-DMD) and its ...
Yaohua Zhang +24 more
semanticscholar +1 more source
Investigating synthetic oligonucleotide targeting of miR31 in Duchenne muscular dystrophy [PDF]
, 2016 Exon-skipping via synthetic antisense oligonucleotides represents one of the most promising potential therapies for Duchenne muscular dystrophy (DMD), yet this approach is highly sequence-specific and thus each oligonucleotide is of benefit to only a ...
Hildyard, J C W, Wells, D J
core +1 more source
Acta Neuropathologica Communications, 2021 During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies.
Dominic Scaglioni +19 more
doaj +1 more source
Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O +9 more
core +2 more sources
Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. [PDF]
, 2019 Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Barthélémy, Florian +6 more
core +1 more source
Alterations of dystrophin-associated glycoproteins in the heart lacking dystrophin or dystrophin and utrophin [PDF]
Journal of Muscle Research and Cell Motility, 2013 Heart disease is a leading cause of death in patients with Duchenne muscular dystrophy (DMD). Patients with DMD lack the protein dystrophin, which is widely expressed in striated muscle. In skeletal muscle, the loss of dystrophin results in dramatically decreased expression of the dystrophin associated glycoprotein complex (DGC).
Katharine M, Sharpe +2 more
openaire +2 more sources
Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy
Molecular Therapy, 2018 Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by dystrophin gene mutation. Conceptually, replacing the mutated gene with a normal one would cure the disease.
D. Duan
semanticscholar +1 more source
Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V +15 more
core +3 more sources