Recent Advances and Clinical Applications of Exon Inclusion for Spinal Muscular Atrophy.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_3
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in SMN1 that stops production of SMN (survival of motor neuron) protein. Insufficient levels of SMN results in the loss of motor… read more here.
Keywords: advances clinical; spinal muscular; recent advances; muscular atrophy ... See more keywords
Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.
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DOI: 10.1007/978-1-4939-8651-4_5
Abstract: Antisense-mediated exon skipping and exon inclusion have proven to be powerful tools for treating neuromuscular diseases. The approval of Exondys 51 (eteplirsen) and Spinraza (nusinersen) for the treatment of patients with Duchenne muscular dystrophy (DMD)… read more here.
Keywords: exon inclusion; exon skipping; skipping exon; muscular dystrophy ... See more keywords
TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A
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DOI: 10.1371/journal.pbio.3002028
Abstract: A major function of TAR DNA-binding protein-43 (TDP-43) is to repress the inclusion of cryptic exons during RNA splicing. One of these cryptic exons is in UNC13A, a genetic risk factor for amyotrophic lateral sclerosis… read more here.
Keywords: als ftd; risk; cryptic exon; inclusion ... See more keywords