mGluR5 PAMs rescue cortical and behavioural defects in a mouse model of CDKL5 deficiency disorder

A Gurgone, R Pizzo, A Raspanti, G Chiantia… - …, 2023 - nature.com
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a devastating
rare neurodevelopmental disease without a cure, caused by mutations of the …

AMPA receptor dysregulation and therapeutic interventions in a mouse model of CDKL5 deficiency disorder

M Yennawar, RS White, FE Jensen - Journal of Neuroscience, 2019 - Soc Neuroscience
Pathogenic mutations in cyclin-dependent kinase-like 5 (CDKL5) result in CDKL5 deficiency
disorder (CDD), a rare disease marked by early-life seizures, autistic behaviors, and …

[HTML][HTML] 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 …

[HTML][HTML] Functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder are rescued by a TrkB agonist

E Ren, V Roncacé, S Trazzi, C Fuchs… - Frontiers in Cellular …, 2019 - frontiersin.org
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a severe X-linked
neurodevelopmental encephalopathy caused by mutations in the CDKL5 gene and …

Enhanced hippocampal LTP but typical NMDA receptor and AMPA receptor function in a novel rat model of CDKL5 deficiency disorder

LS de Oliveira, HE O'Leary, S Nawaz, R Loureiro… - bioRxiv, 2022 - biorxiv.org
Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause a severe
neurological disorder characterised by early-onset epileptic seizures, autism and intellectual …

[HTML][HTML] Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits

B Terzic, MF Davatolhagh, Y Ho, S Tang… - The Journal of …, 2021 - Am Soc Clin Investig
CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome
associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase …

[HTML][HTML] Loss of CDKL5 causes synaptic GABAergic defects that can be restored with the neuroactive steroid pregnenolone-methyl-ether

R De Rosa, S Valastro, C Cambria, I Barbiero… - International Journal of …, 2022 - mdpi.com
CDKL5 deficiency disorder (CDD) is an X-linked neurodevelopmental disorder
characterised by early-onset drug-resistant epilepsy and impaired cognitive and motor skills …

CDKL5 deficiency predisposes neurons to cell death through the deregulation of SMAD3 signaling

C Fuchs, G Medici, S Trazzi, L Gennaccaro… - Brain …, 2019 - Wiley Online Library
CDKL5 deficiency disorder (CDD) is a rare encephalopathy characterized by early onset
epilepsy and severe intellectual disability. CDD is caused by mutations in the X‐linked cyclin …

[HTML][HTML] A GABAB receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder

L Gennaccaro, C Fuchs, M Loi, V Roncacè… - Neurobiology of …, 2021 - Elsevier
Abstract CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder (CDD) is a severe
neurodevelopmental encephalopathy characterized by early-onset epilepsy and intellectual …

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 …