Publications by authors named "Kathleen E Donovan"
Article Synopsis
- CDKL5 deficiency disorder (CDD) is a rare condition caused by genetic variants in the CDKL5 gene that lead to issues with neuronal development and function, particularly impacting epilepsy.
- Research using patient-derived induced pluripotent stem cells aimed to understand how these variants affect neurons, showing that while some aspects like neurite length appeared similar to controls, organoid-derived neurons exhibited increased network activity and excitability.
- The findings suggest that differences in neuronal behavior and gene expression are specific to excitatory cortical neurons, highlighting the potential for developing targeted therapies for CDD by exploring the molecular mechanisms behind early neuronal hyperexcitability.
Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues. Several important signaling pathways are regulated through the primary cilium including Sonic Hedgehog (Shh) and Wnt signaling.
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