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

Awardee: Maria Luisa Tutino, PhD

Institution: University of Naples

Award Amount: $148,300

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CDKL5 regulation of ciliary assembly and signaling

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MEK inhibition for RASopathy associated hypertrophic cardiomyopathy