Syndrome and Dent Disease. I showed that OCRL1 bidirectionally controls dendritic spine density, miniature excitatory synaptic transmission and LTP. In addition, OCRL1 regulates AMPAr endocytosis and the homeostasis of cellular AMPAr amount in primary hippocampal neurons. In chapter 6, we report on a disruptive mutation in the X-linked KIF4A and a de novo missense mutation in KIF5C in patients with ID and epilepsy. I further describe emerging roles of KIF4A and KIF5C in maintaining the balance between excitation and inhibition. In chapter
7, a discussion of all the collected data is provided, and prospects for future work and the
potential therapeutic implications for neurological disorders are discussed.
26 ş
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ter 1
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