Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome

Aberrant splicing in exon 11 of the LMNA gene causes the premature aging disorder Hutchinson-Gilford Progeria Syndrome. A de novo C1824T mutation activates an internal alternative 5′ splice site, resulting in formation of the disease-causing progerin protein. The underlying mechanism for this 5′ spl...

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Detaylı Bibliyografya
Yayımlandı:Nucleic Acids Res
Asıl Yazarlar: Shilo, Asaf, Tosto, Frances Anne, Rausch, Jason W, Le Grice, Stuart F J, Misteli, Tom
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2019
Konular:
RNA and RNA-protein complexes
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6582319/
https://ncbi.nlm.nih.gov/pubmed/31006814
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz259
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