Coordinated actions of microRNAs with other epigenetic factors regulate skeletal muscle development and adaptation [PDF]
, 2017 Epigenetics plays a pivotal role in regulating gene expression in development, in response to cellular stress or in disease states, in virtually all cell types.
Adamo, Sergio +3 more
core +1 more source
Duchenne muscular dystrophy treatment with lentiviral vector containing mini‐dystrophin gene in vivo
MedCommDuchenne muscular dystrophy (DMD) is an incurable X‐linked recessive genetic disease caused by mutations in the dystrophin gene. Many researchers aim to restore truncated dystrophin via viral vectors.
Xiaoyu Wang +11 more
doaj +1 more source
Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. [PDF]
, 2019 Biological roles of obscurin and its close homolog Obsl1 (obscurin-like 1) have been enigmatic. While obscurin is highly expressed in striated muscles, Obsl1 is found ubiquitously.
Blondelle, Jordan +13 more
core +1 more source
Genetic modifiers of ambulation in the cooperative international Neuromuscular Research Group Duchenne natural history study [PDF]
, 2015 OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.
Andreone, Luz +13 more
core +1 more source
The FEBS Journal, EarlyView.The damage caused by myocardial infarction is exacerbated in the absence of collagen XV and leads to pathological remodelling and more severe left ventricle dysfunction (left panel) compared with the wild‐type littermates. These changes are accompanied by a wide‐ranging impact, including phenotypical (middle panel) and molecular (right panel) changes ...
Sanna‐Maria Karppinen +15 more
wiley +1 more source
Steric regulation of tandem calponin homology domain actin-binding affinity. [PDF]
, 2019 Tandem calponin homology (CH1-CH2) domains are common actin-binding domains in proteins that interact with and organize the actin cytoskeleton. Despite regions of high sequence similarity, CH1-CH2 domains can have remarkably different actin-binding ...
Bausch, Andreas +6 more
core +1 more source
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]
, 2016 Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal +92 more
core +3 more sources
Experimental Physiology, EarlyView.Abstract Duchenne muscular dystrophy (DMD) is characterized by respiratory muscle injury and weakness, ultimately leading to respiratory failure. Impaired respiratory muscle performance, fibrosis and inflammation in early disease are evident in the dystrophin‐deficient mdx mouse model of DMD.
Michael N. Maxwell +3 more
wiley +1 more source
A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]
, 2012 Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie +2 more
core +1 more source
Journal of Translational Medicine, 2009 The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular Dystrophy (DMD), a severe disorder, while a defect of ...
Gollop Thomaz R +6 more
doaj +1 more source