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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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| Publicado no: | Brain Pathol |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | 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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