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Regulatory mechanisms of incomplete huntingtin mRNA splicing

Huntington’s disease is caused by a CAG repeat expansion in exon 1 of the HTT gene. We have previously shown that exon 1 HTT does not always splice to exon 2 producing a small transcript (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein. The mechanisms by which this incomplete splicin...

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Detalles Bibliográficos
Autores principales: Neueder, Andreas, Dumas, Anaelle A., Benjamin, Agnesska C., Bates, Gillian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160442/
https://www.ncbi.nlm.nih.gov/pubmed/30262848
http://dx.doi.org/10.1038/s41467-018-06281-3