Associated Papers
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
Active human full-length CDKL5 produced in the Antarctic bacterium Pseudoalteromonas haloplanktis TAC125.
Colarusso A et al.
Microbial Cell Factories, 2022
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
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Stem cells: A path towards improved epilepsy therapies.
Lybrand ZR et al.
Neuropharmacology, 2020
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder.
Katayama S et al.
Neural Plasticity, 2020
Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.
Fazzari M et al.
Rna Biology, 2019
Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase.
Muñoz IM et al.
The Embo Journal, 2018
CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function.
Canning P et al.
Cell Reports, 2018
CDKL5 variants: Improving our understanding of a rare neurologic disorder.
Hector RD et al.
Neurology. Genetics, 2017
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.
Jdila MB et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 2015
Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
Raymond L et al.
Gene, 2013
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Ricciardi S et al.
Nature Cell Biology, 2012
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
Bahi-Buisson N et al.
Molecular Syndromology, 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
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
Ricciardi S et al.
Human Molecular Genetics, 2009
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
Erez A et al.
Neurogenetics, 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