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The CDKL5 protein acts as a kinase, which is an enzyme that modulates the activity of other proteins by adding a phosphate group to specific positions. The CDKL5 protein regulates neuronal morphology through cytoplasmic signaling and by controlling gene expression, playing a crucial role in the development and maintenance of the nervous system.
X reactivation: in female patients heterozygous for the CDKL5 mutation, each cell expressing the mutant protein also carries a fully functional, but silent, CDKL5 gene copy on the inactivated X chromosome. One strategy for treatment of girls with CDD is thus to re-activate the silent, inactivated CDKL5 gene on the inactivated X chromosome.
Ganaxolone, sold under the brand name Ztalmy, is a medication used to treat seizures in people with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder. [1] [3] Ganaxolone is a neuroactive steroid gamma-aminobutyric acid (GABA) A receptor positive modulator.
12568 Ensembl ENSG00000164885 ENSMUSG00000028969 UniProt Q00535 P49615 RefSeq (mRNA) NM_001164410 NM_004935 NM_007668 RefSeq (protein) NP_001157882 NP_004926 NP_031694 Location (UCSC) Chr 7: 151.05 – 151.06 Mb Chr 5: 24.62 – 24.63 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cyclin-dependent kinase 5 is a protein, and more specifically an enzyme, that is encoded by the Cdk5 ...
Soticlestat (TAK-935, OV-935) is an experimental anticonvulsant and cholesterol 24-hydroxylase inhibitor being investigated as a treatment for Dravet syndrome, Lennox–Gastaut syndrome, tuberous sclerosis complex, dup15q syndrome, and CDKL5 deficiency disorder. [1] [2] The development rights to the drug were purchased by Takeda Pharmaceuticals ...
c-Jun N-terminal kinases (JNKs), were originally identified as kinases that bind and phosphorylate c-Jun on Ser-63 and Ser-73 within its transcriptional activation domain.. They belong to the mitogen-activated protein kinase family, and are responsive to stress stimuli, such as cytokines, ultraviolet irradiation, heat shock, and osmotic s
Cyclin-dependent kinase-like 2 is an enzyme that in humans is encoded by the CDKL2 gene. [ 5 ] [ 6 ] This gene product is a member of a large family of CDC2-related serine/threonine protein kinases.
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development.