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...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: Gravesteijn, Gido, Dauwerse, Johannes G, Overzier, Maurice, Brouwer, Gwendolyn, Hegeman, Ingrid, Mulder, Aat A, Baas, Frank, Kruit, Mark C, Terwindt, Gisela M, van Duinen, Sjoerd G, Jost, Carolina R, Aartsma-Rus, Annemieke, Lesnik Oberstein, Saskia A J, Rutten, Julie W
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2020
Teme:
General Article
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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