Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204+6T>C) that negatively affects the definition of exon 20 in the elongator complex protein 1 gene (ELP1 also known as IKBKAP). This substitution modifies the 5′ splice site and, in c...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Donadon, Irving, Pinotti, Mirko, Rajkowska, Katarzyna, Pianigiani, Giulia, Barbon, Elena, Morini, Elisabetta, Motaln, Helena, Rogelj, Boris, Mingozzi, Federico, Slaugenhaupt, Susan A, Pagani, Franco
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6030917/
https://ncbi.nlm.nih.gov/pubmed/29701768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy151
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