Associated Papers
A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.
Feng X et al.
Neuroscience Bulletin, 2025
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Advances in the pathogenesis of Rett syndrome using cell models.
Lu S et al.
Animal Models and Experimental Medicine, 2022
Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models.
Haase FD et al.
Frontiers in Neuroscience, 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
Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.
Fazzari M et al.
Rna Biology, 2019
Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.
Bernardo P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2019
Progress in the molecular mechanisms of genetic epilepsies using patient-induced pluripotent stem cells.
Zhou R et al.
Epilepsia Open, 2018
Advancing drug discovery for neuropsychiatric disorders using patient-specific stem cell models.
Haggarty SJ et al.
Molecular and Cellular Neurosciences, 2016
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
Livide G et al.
European Journal of Human Genetics : Ejhg, 2015
There is variability in the attainment of developmental milestones in the CDKL5 disorder.
Fehr S et al.
Journal of Neurodevelopmental Disorders, 2015
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.
Yamamoto T et al.
Human Genome Variation, 2015
Modeling neurodevelopmental disorders using human neurons.
Chailangkarn T et al.
Current Opinion in Neurobiology, 2012
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
Bahi-Buisson N et al.
Molecular Syndromology, 2012
X-chromosome inactivation in rett syndrome human induced pluripotent stem cells.
Cheung AY et al.
Frontiers in Psychiatry, 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
iPS cells to model CDKL5-related disorders.
Amenduni M et al.
European Journal of Human Genetics : Ejhg, 2011
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS et al.
Epilepsia, 2011
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.
Srikanth P et al.
Journal of Neurogenetics, 0