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Nonsense readthrough therapy for Duchenne muscular dystrophy
Rinsho Shinkeigaku, 2014Duchenne muscular dystrophy (DMD) is the most common form of inherited muscle disease and is characterized by progressive muscle wasting ultimately resulting in death of the patients in their twenties. DMD is characterized by a deficiency of the muscle dystrophin as a result of mutations in the dystrophin gene. Currently, no effective treatment for DMD
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Readthrough Acetylcholinesterase: A Multifaceted Inducer of Stress Reactions
Journal of Molecular Neuroscience, 2006Stress insults induce hyperexcitation of cholinergic circuits, both peripherally in the sympathetic pathway (Tracey, 2002) and at the central nervous system (CNS) (Sapolsky, 1996). This reaction can serve to ensure survival but might also entail a risk to the hyperactivated neurons.
Gabriel, Zimmerman, Hermona, Soreq
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Cancer syndromes and therapy by stop-codon readthrough
Trends in Molecular Medicine, 2012Several hereditary cancer syndromes are associated with nonsense mutations that create premature termination codons (PTC). Therapeutic strategies involving readthrough induction partially restore expression of proteins with normal function from nonsense-mutated genes, and small molecules such as aminoglycosides and PTC124 have exhibited promising ...
Bordeira-Carriço, Renata +3 more
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Translational readthrough induction of pathogenic nonsense mutations
European Journal of Medical Genetics, 2006The treatment of genetic disorders is one of the biggest challenges lying ahead of modern medicine. While major advancements have been made in gene therapy, it is still far from achieving clinical success. However, other potential methods for treating single gene related diseases have also emerged recently.
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The role of readthrough acetylcholinesterase in the pathophysiology of myasthenia gravis
The FASEB Journal, 2003Alternative splicing induces, under abnormal cholinergic neurotransmission, overproduction of the rare “readthrough” acetylcholinesterase variant AChE‐R. We explored the pathophysiological relevance of this phenomenon in patients with myasthenia gravis (MG) and rats with experimental autoimmune MG (EAMG), neuromuscular junction ...
Talma, Brenner +5 more
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Screening Methods for NMD Inhibitors or Readthrough Activators
Nonsense mutations cause approximately 10% of genetic disease cases. Certain molecules can rescue the expression of genes carrying a nonsense mutation, either by activating readthrough of the premature termination codon or by inhibiting the mRNA surveillance mechanism called nonsense-mediated mRNA decay (NMD).Nedjma, Selma, Lejeune, Fabrice
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Deciphering the molecular mechanism of stop codon readthrough
Biological Reviews, 2021Martine Palma, Fabrice Lejeune
exaly
Programmed Readthrough of Translational Termination Codons
1997If alternative decoding events occur only during a translational pause, then any translational pause of sufficient duration could cause an aberrant event to occur. Of course, all translational pauses do not since much more is required than simply a translational pause.
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Mammalian proteome expansion by stop codon readthrough
Wiley Interdisciplinary Reviews RNA, 2023Sandeep M Eswarappa +2 more
exaly