CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

NJ Van Bergen, S Massey, A Quigley… - Biochemical Society …, 2022 - portlandpress.com
CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is
caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene …

Rett syndrome and CDKL5 deficiency disorder: from bench to clinic

SD Kadam, BJ Sullivan, A Goyal, ME Blue… - International journal of …, 2019 - mdpi.com
Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked
developmental brain disorders with overlapping but distinct phenotypic features. This review …

Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy

PD Negraes, CA Trujillo, NK Yu, W Wu, H Yao… - Molecular …, 2021 - nature.com
Early-onset epileptic encephalopathies are severe disorders often associated with specific
genetic mutations. In this context, the CDKL5 deficiency disorder (CDD) is a …

Luteolin treatment ameliorates brain development and behavioral performance in a mouse model of CDKL5 deficiency disorder

M Tassinari, N Mottolese, G Galvani, D Ferrara… - International Journal of …, 2022 - mdpi.com
CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental disease caused
by mutations in the X-linked CDKL 5 gene, is characterized by early-onset epilepsy …

Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder

G Galvani, N Mottolese, L Gennaccaro, M Loi… - Journal of …, 2021 - Springer
Background CDKL5 deficiency disorder (CDD), a severe neurodevelopmental disorder
characterized by early onset epilepsy, intellectual disability, and autistic features, is caused …

Voluntary running improves behavioral and structural abnormalities in a mouse model of CDKL5 deficiency disorder

N Mottolese, B Uguagliati, M Tassinari, CB Cerchier… - Biomolecules, 2023 - mdpi.com
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare
neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. CDD is …

[HTML][HTML] The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo

L Trovò, C Fuchs, R De Rosa, I Barbiero… - Neurobiology of …, 2020 - Elsevier
CDKL5 deficiency disorder (CDD) is a rare X-linked neurodevelopmental disorder that is
characterised by early-onset seizures, intellectual disability, gross motor impairment, and …

Stress‐Sensitive Protein Rac1 and Its Involvement in Neurodevelopmental Disorders

X Wang, D Liu, F Wei, Y Li, X Wang, L Li… - Neural …, 2020 - Wiley Online Library
Ras‐related C3 botulinum toxin substrate 1 (Rac1) is a small GTPase that is well known for
its sensitivity to the environmental stress of a cell or an organism. It senses the external …

Cyclin‐Dependent Kinase‐Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder

S Katayama, N Sueyoshi, T Inazu… - Neural plasticity, 2020 - Wiley Online Library
Cyclin‐dependent kinase‐like 5 (CDKL5, also known as STK9) is a serine/threonine protein
kinase originally identified in 1998 during a transcriptional mapping project of the human X …

Treatment with a GSK-3β/HDAC Dual Inhibitor Restores Neuronal Survival and Maturation in an In Vitro and In Vivo Model of CDKL5 Deficiency Disorder

M Loi, L Gennaccaro, C Fuchs, S Trazzi… - International Journal of …, 2021 - mdpi.com
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause a rare
neurodevelopmental disorder characterized by early-onset seizures and severe cognitive …