Associated Papers
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis.
Yalçın Çapan Ö
Journal of Molecular Neuroscience : Mn, 2025
Bacterial Production of CDKL5 Catalytic Domain: Insights in Aggregation, Internal Translation and Phosphorylation Patterns.
Colarusso A et al.
International Journal of Molecular Sciences, 2024
Novel CDKL5 targets identified in human iPSC-derived neurons.
Massey S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis.
Takeguchi R et al.
Journal of the Neurological Sciences, 2024
CDKL5 regulates p62-mediated selective autophagy and confers protection against neurotropic viruses.
Thinwa JW et al.
The Journal of Clinical Investigation, 2024
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
Sampedro-Castañeda M et al.
Nature Communications, 2023
Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology.
Castano A et al.
Elife, 2023
Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology.
Castano A et al.
Biorxiv : the Preprint Server for Biology, 2023
Discovery of a Potent and Selective CDKL5/GSK3 Chemical Probe That Is Neuroprotective.
Ong HW et al.
Acs Chemical Neuroscience, 2023
Epilepsy-Related CDKL5 Deficiency Slows Synaptic Vesicle Endocytosis in Central Nerve Terminals.
Kontaxi C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2023
A Potent and Selective CDKL5/GSK3 Chemical Probe is Neuroprotective.
Ong HW et al.
Biorxiv : the Preprint Server for Biology, 2023
Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder.
Fuchs C et al.
Cns Neuroscience & Therapeutics, 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
Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.
Frasca A et al.
Neurology. Genetics, 2022
CDKL5 kinase controls transcription-coupled responses to DNA damage.
Khanam T et al.
The Embo Journal, 2021
Cyclin-dependent-like kinase 5 is required for pain signaling in human sensory neurons and mouse models.
La Montanara P et al.
Science Translational Medicine, 2020
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?
MacKay CI et al.
American Journal of Medical Genetics. Part A, 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
CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder.
Trazzi S et al.
Human Molecular Genetics, 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
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex.
Barbiero I et al.
Human Molecular Genetics, 2017
HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder.
Trazzi S et al.
Human Molecular Genetics, 2016
CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization.
Nawaz MS et al.
Plos One, 2016
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 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, 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
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.
Rusconi L et al.
The Journal of Biological Chemistry, 2008
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
Rosas-Vargas H et al.
Journal of Medical Genetics, 2008
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
Lin C et al.
Human Molecular Genetics, 2005