Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation

Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (NHD), a rare genetic disease characterized by early-onset dementia with leukoencephalopathy and bone cysts. An NHD-associated mutation, c.482 + 2 T > C, disrupts the splice donor site of intron 3 and causes aberrant skipping of exon 3...

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Detalles Bibliográficos
Autores principales: Yanaizu, Motoaki, Sakai, Kenji, Tosaki, Youhei, Kino, Yoshihiro, Satoh, Jun-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931963/
https://www.ncbi.nlm.nih.gov/pubmed/29720600
http://dx.doi.org/10.1038/s41598-018-25204-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931963/
https://www.ncbi.nlm.nih.gov/pubmed/29720600
http://dx.doi.org/10.1038/s41598-018-25204-2

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