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Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, being executive function charac...
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994794/ https://www.ncbi.nlm.nih.gov/pubmed/33767277 http://dx.doi.org/10.1038/s41598-021-86349-1 |