Duchenne muscular dystrophy: From diagnosis to therapy [PDF]
, 2015 Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of
Falzarano, M. S. +3 more
core +2 more sources
Utrophin up-regulation by an artificial transcription factor in transgenic mice.
PLoS ONE, 2007 Duchenne Muscular Dystrophy (DMD) is a severe muscle degenerative disease, due to absence of dystrophin. There is currently no effective treatment for DMD.
Elisabetta Mattei +13 more
doaj +1 more source
New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target
BioEssays, Volume 47, Issue 3, March 2025.Cellular senescence accumulates in the skeletal muscle of patients with myotonic dystrophy Type 1, leading to the production of senescence‐associated secretory phenotype (SASP) factors that have detrimental effects. Targeting these senescent cells with senotherapeutics could restore muscle homeostasis and slow disease progression.
Cécilia Légaré +3 more
wiley +1 more source
Tadalafil Treatment Delays the Onset of Cardiomyopathy in Dystrophin‐Deficient Hearts
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016 BackgroundCardiomyopathy is a leading cause of mortality among Duchenne muscular dystrophy patients and lacks effective therapies. Phosphodiesterase type 5 is implicated in dystrophic pathology, and the phosphodiesterase type 5 inhibitor tadalafil has ...
David W. Hammers +5 more
doaj +1 more source
Salivary Proteome Is Altered in Children With Small Area Thermal Burns
PROTEOMICS – Clinical Applications, Volume 19, Issue 2, March 2025.ABSTRACT Saliva is a child appropriate biofluid, but it has not previously been used to evaluate the systemic response to burn injury in children. The aim of this study was to investigate the salivary proteome of children with small area thermal skin burns relative to different burn characteristics (mechanism, time to re‐epithelialization and risk of ...
Morgan Carlton +5 more
wiley +1 more source
The Utrophin Gene Is Transcriptionally Up-regulated in Regenerating Muscle
Journal of Biological Chemistry, 2002 The utrophin gene codes for a large cytoskeletal protein closely related to dystrophin, the gene mutated in Duchenne's muscular dystrophy. Although utrophin could functionally substitute for dystrophin, in Duchenne's muscular dystrophy patients it did not compensate for the absence of dystrophin because in adult muscle utrophin was poorly expressed and
GALVAGNI F. +2 more
openaire +5 more sources
Regulation of the cardiac sodium channel Nav1.5 by utrophin in dystrophin-deficient mice [PDF]
, 2017 Aims Duchenne muscular dystrophy (DMD) is a severe striated muscle disease due to the absence of dystrophin. Dystrophin deficiency results in dysfunctional sodium channels and conduction abnormalities in hearts of mdx mice. Disease progression in the mdx
Abriel, Hugues +3 more
core
Description of a utrophin associated protein complex in lipid raft domains of human artery smooth muscle cells [PDF]
, 2014 The dystrophin-associated protein complex (DAPC) is a multimeric complex that links the extracellular matrix to the actin cytoskeleton, and in some cases dystrophin can be substituted by its autosomal homologue utrophin to form the utrophin-associated ...
Canto, Patricia +4 more
core +1 more source
Utrophin up-regulation helps maintain normal cardiac geometry in a gene therapy model for Duhenne muscular dystrophy heart disease [abstract] [PDF]
, 2010 Duchenne muscular dystrophy (DMD) is the most common childhood muscle wasting disease. DMD sufferers rarely survive past their mid-twenties succumbing to respiratory or heart failure.
Bostick, Brian P., 1979-
core
Muscle-Specific SIRT1 Gain-of-Function Increases Slow-Twitch Fibers and Ameliorates Pathophysiology in a Mouse Model of Duchenne Muscular Dystrophy [PDF]
, 2013 SIRT1 is a metabolic sensor and regulator in various mammalian tissues and functions to counteract metabolic and age-related diseases. Here we generated and analyzed mice that express SIRT1 at high levels specifically in skeletal muscle.
Chalkiadaki, Angeliki +4 more
core +3 more sources