Article
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Nature cell biology - 1 Sept 2012
Ricciardi Sara, Ungaro Federica, Hambrock Melanie, Rademacher Nils, Stefanelli Gilda, Brambilla Dario, Sessa Alessandro, Magagnotti Cinzia, Bachi Angela, Giarda Elisa, Verpelli Chiara, Kilstrup-Nielsen Charlotte, Sala Carlo, Kalscheuer Vera M, Broccoli Vania
Abstract excerpt
Mutations of the cyclin-dependent kinase-like 5 (CDKL5) and netrin-G1 (NTNG1) genes cause a severe neurodevelopmental disorder with clinical features that are closely related to Rett syndrome, including intellectual disability, early-onset intractable epilepsy and autism. We report here that CDKL5 is localized at excitatory synapses and contributes to correct dendritic spine structure and synapse activity. To...
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