Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kine...
Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure
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United States: Public Library of Science
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English
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United States: Public Library of Science
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Familial Dysautonomia (FD) is a rare disease caused by ELP1 exon 20 skipping. Here we clarify the role of RNA Polymerase II (RNAPII) and chromatin on this splicing event. A slow RNAPII mutant and chromatin-modifying chemicals that reduce the rate of RNAPII elongation induce exon skipping whereas chemicals that create a more relaxed chromatin exon i...
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Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure
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TN_cdi_plos_journals_3069269579
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_3069269579
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1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0298965