Small nuclear RNA-mediated modulation of splicing reveals a therapeutic strategy for a TREM2 mutation and its post-transcriptional regulation
Abstract 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...
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| Main Authors: | , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
Nature Portfolio
2018
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| Subjects: | |
| Online Access: | https://doaj.org/article/c62d64c8e1ef42d6b0c92f5a3a770ed6 |
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