Associated Papers
Suppressor tRNAs as personalized therapy for nonsense mutation-associated pathologies.
Ignatova Z et al.
Pharmacology & Therapeutics, 2025
CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.
Paul SK et al.
International Journal of Molecular Sciences, 2025
A Novel Mouse Model Unveils Protein Deficiency in Truncated CDKL5 Mutations.
Feng X et al.
Neuroscience Bulletin, 2025
Independent genetic strategies define the scope and limits of CDKL5 deficiency disorder reversal.
Song X et al.
Cell Reports. Medicine, 2025
A cross-correction gene therapy approach for CDKL5 deficiency disorder improves the pathological phenotype of CDD patient-derived cortical organoids.
Medici G et al.
Frontiers in Bioengineering and Biotechnology, 2025
Engineered tRNAs efficiently suppress CDKL5 premature termination codons.
Pezzini S et al.
Scientific Reports, 2024
A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling.
Quadalti C et al.
Heliyon, 2024
Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder.
Voronin G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Novel CDKL5 targets identified in human iPSC-derived neurons.
Massey S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.
Dell'Isola GB et al.
Journal of Neurology, 2024
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.
Simões de Oliveira L et al.
Molecular Autism, 2024
Cannabidiol attenuates seizure susceptibility and behavioural deficits in adult CDKL5R59X knock-in mice.
Li X et al.
The European Journal of Neuroscience, 2024
Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.
Ivaniuk A et al.
Genetics in Medicine Open, 2024
CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome.
Liao W et al.
Human Molecular Genetics, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
mGluR5 PAMs rescue cortical and behavioural defects in a mouse model of CDKL5 deficiency disorder.
Gurgone A et al.
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male.
Rodak M et al.
Children (basel, Switzerland), 2022
Neuronal hyperexcitability and ion channel dysfunction in CDKL5-deficiency patient iPSC-derived cortical organoids.
Wu W et al.
Neurobiology of Disease, 2022
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency.
Adhikari A et al.
Human Molecular Genetics, 2022
Novel preclinical model for CDKL5 deficiency disorder.
Serrano RJ et al.
Disease Models & Mechanisms, 2022
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.
Weng OY et al.
Frontiers in Molecular Neuroscience, 2022
Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy.
Negraes PD et al.
Molecular Psychiatry, 2021
Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder-related deficits.
Terzic B et al.
The Journal of Clinical Investigation, 2021
Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder.
Van Bergen NJ et al.
Neurobiology of Disease, 2021
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.
Tang Y et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
MacKay CI et al.
Clinical Genetics, 2021
X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder.
Terzic B et al.
Neurobiology of Disease, 2021
Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms.
Mulcahey PJ et al.
Experimental Neurology, 2020
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
Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
Barbiero I et al.
International Journal of Molecular Sciences, 2019
Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder.
Tang S et al.
Nature Communications, 2019
AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder.
Yennawar M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics.
Baltussen LL et al.
The Embo Journal, 2018