CDKL5 regulation of ciliary assembly and signaling

Awardee: Gregory J. Pazour, PhD

Institution: University of Massachusetts Medical School

Award Amount: $150,000

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Assessing peripheral sensory neuron dysfunction in animal models for CDKL5 deficiency disorder

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Structural/functional characterization of full-length hCDKL5 isoform 1 produced in recombinant marine bacteria and use of pharmacological chaperones to stabilize hCDKL5 missense mutants