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Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients
CADASIL is a vascular protein aggregation disorder caused by cysteine-altering NOTCH3 variants, leading to mid-adult-onset stroke and dementia. Here, we report individuals with a cysteine-altering NOTCH3 variant that induces exon 9 skipping, mimicking therapeutic NOTCH3 cysteine correction. The inde...
Shranjeno v:
| izdano v: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Oxford University Press
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7372551/ https://ncbi.nlm.nih.gov/pubmed/31960911 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz285 |
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