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T.P.21 Exon skipping for dysferlinopathies
Neuromuscular Disorders, 2012Abstract Mutations in the dysferlin encoding DYSF gene have been reported for limb-girdle muscular dystrophy 2B, miyoshi myopathy and distal myopathy with anterior tibial onset patients. Most patients have small mutations within exons, inducing premature stops or amino acid substitutions, which lead to protein instability or mislocalization.
A. Aartsma-Rus +5 more
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Antisense-Mediated Exon Skipping to Reframe Transcripts
2012Numerous genetic disorders are caused by loss-of-function mutations that disrupt the open reading frame of the gene either by nonsense or by frameshift (insertion, deletion, indel, or splicing) mutations. Most of the time, the result is the absence of functional protein synthesis due to mRNA degradation by nonsense-mediated mRNA decay, or rapid ...
Sandrina, Turczynski +3 more
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Exon skipping in Duchenne muscular dystrophy
Neuromuscular Disorders, 2008What the journals ...
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Optimizing exon skipping therapies for DMD.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2008Exon skipping is one of the more promising therapeutic options for Duchenne Muscular Dystrophy (DMD). The idea is to use antisense oligonucleotides to splice out selected exons from the pre-mRNA, at or next to the mutation site, so as to generate a translatable transcript from the mutant dystrophin gene.
T, Yokota, W, Duddy, T, Partridge
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Proceedings of the National Academy of Sciences of the United States of America, 2022
Kenji Rowel Q Lim +2 more
exaly
Kenji Rowel Q Lim +2 more
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Posttranslational Regulation of the Exon Skipping Machinery Controls Aberrant Splicing in Leukemia
Cancer Discovery, 2020Yalu Zhou +2 more
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