Dystrophin function
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Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface
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Cited by (17)
Pharmacological advances for treatment in Duchenne muscular dystrophy
2017, Current Opinion in PharmacologyCitation Excerpt :Absence of dystrophin and subsequent loss of the DAPC leads to progressive defects including perturbation of the calcium homeostasis, activation of proteases and pro-inflammatory cytokines, and mitochondrial dysfunction resulting in continual influx of inflammation, fibrosis, repeated cycles of necrosis and altered regeneration, with impaired vascular adaptation (Figure 1). The myofibres become more susceptible to contraction-induced injury, which results in premature death, muscle wasting and fatty tissue replacement [6]. Despite exhaustive clinical management and corticosteroid treatment, there is currently no effective treatment for DMD, although considerable progress has been made recently in genetic approaches [7,8].
Chapter 9 The Value of Mammalian Models for Duchenne Muscular Dystrophy in Developing Therapeutic Strategies
2008, Current Topics in Developmental BiologyCitation Excerpt :Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked recessive mutations in the dystrophin gene (Chamberlain, 1991; Chamberlain and Rando, 2006; Emery, 1990; Engel and Franzini-Armstrong, 2004).
The potential of utrophin modulators for the treatment of Duchenne muscular dystrophy
2018, Expert Opinion on Orphan DrugsIdentification of serum protein biomarkers for utrophin based DMD therapy
2017, Scientific ReportsDuchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26
2016, BMC Medical Genetics