ArticleInternational journal of molecular sciences2025
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder, which is a developmental and epileptic encephalopathy occurring in 1 in every 40,000 to 60,000 live births, was the subject of this computational investigation. This study provided a comprehensive list of missense variants (156) seen in the human population within the CDKL5 protein. Furthermore, the list of CDKL5 binding partners was updated to include four new entries. Computational modeling resulted in 3D structure models of twenty-four CDKL5-target protein complexes. The CDKL5 stability changes upon the above-mentioned missense mutations that were modeled, and it was shown that the corresponding folding free energy changes (ΔΔG
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