Associated Papers
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
Nauth T et al.
The Journal of Clinical Investigation, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.
Yoshimura Y et al.
International Journal of Molecular Sciences, 2022
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.
Katayama S et al.
Neural Plasticity, 2020
In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment.
Fahmi M et al.
International Journal of Molecular Sciences, 2019
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM et al.
The Embo Journal, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.
Sekiguchi M et al.
Archives of Biochemistry and Biophysics, 2013
Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development.
Zhu YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
Bahi-Buisson N et al.
Molecular Syndromology, 2012
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
Williamson SL et al.
Human Genetics, 2012
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
Kilstrup-Nielsen C et al.
Neural Plasticity, 2012
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling.
Chen Q et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
Ricciardi S et al.
Human Molecular Genetics, 2009
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos C et al.
Clinical Genetics, 2009
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S et al.
Neurogenetics, 2009
A CDKL5 mutated child with precocious puberty.
Saletti V et al.
American Journal of Medical Genetics. Part A, 2009
Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2008
The three stages of epilepsy in patients with CDKL5 mutations.
Bahi-Buisson N et al.
Epilepsia, 2008
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
Rosas-Vargas H et al.
Journal of Medical Genetics, 2008
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.
Bienvenu T et al.
Nature Reviews. Genetics, 2006
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
Lin C et al.
Human Molecular Genetics, 2005
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Evans JC et al.
European Journal of Human Genetics : Ejhg, 2005
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
Tao J et al.
American Journal of Human Genetics, 2004
[Molecular basis of Rett syndrome: A current look].
Pantaleón F G et al.
Revista Chilena De Pediatria, 0