CDKL5 deficiency predisposes neurons to cell death through the deregulation of SMAD3 signaling

CDKL5 deficiency disorder (CDD) is a rare encephalopathy characterized by early onset epilepsy and severe intellectual disability. CDD is caused by mutations in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene, a member of a highly conserved family of serine‐threonine kinases. Only a few phy...

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Vydáno v:Brain Pathol
Hlavní autoři: Fuchs, Claudia, Medici, Giorgio, Trazzi, Stefania, Gennaccaro, Laura, Galvani, Giuseppe, Berteotti, Chiara, Ren, Elisa, Loi, Manuela, Ciani, Elisabetta
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
Témata:
Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8028508/
https://ncbi.nlm.nih.gov/pubmed/30793413
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bpa.12716
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