Cardiac functional and structural abnormalities in a mouse model of CDKL5 deficiency disorder

M Loi, S Bastianini, G Candini, N Rizzardi… - International Journal of …, 2023 - mdpi.com
CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder (CDD) is a severe
neurodevelopmental disease that mostly affects girls, who are heterozygous for mutations in …

Neuron-type specific loss of CDKL5 leads to alterations in mTOR signaling and synaptic markers

E Schroeder, L Yuan, E Seong, C Ligon… - Molecular …, 2019 - Springer
CDKL5 disorder is a devastating neurodevelopmental disorder associated with epilepsy,
developmental retardation, autism, and related phenotypes. Mutations in the CDKL5 gene …

Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both …

K Okuda, K Takao, A Watanabe, T Miyakawa… - PloS one, 2018 - journals.plos.org
Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe
neurodevelopmental disorders. Recently we have generated Cdkl5 KO mice by targeting …

Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5

P La Montanara, L Rusconi, A Locarno, L Forti… - Journal of Biological …, 2015 - ASBMB
Mutations in the X-linked CDKL5 (cyclin-dependent kinase-like 5) gene have been
associated with several forms of neurodevelopmental disorders, including atypical Rett …

[HTML][HTML] Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling

C Fuchs, S Trazzi, R Torricella, R Viggiano… - Neurobiology of …, 2014 - Elsevier
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified
in a neurodevelopmental disorder characterized by early-onset intractable seizures, severe …

CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder

S Trazzi, M De Franceschi, C Fuchs… - Human molecular …, 2018 - academic.oup.com
Abstract Cyclin-dependent kinase like-5 (CDKL5) disorder is a rare neurodevelopmental
disease caused by mutations in the CDKL5 gene. The consequent misexpression of the …

CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

GB Dell'Isola, F Antonella, P Francesco, M Mario… - Journal of …, 2024 - Springer
CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-
functional or absent CDKL5 protein, a serine–threonine kinase pivotal for neural maturation …

Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder

I Barbiero, D Peroni, P Siniscalchi, L Rusconi… - …, 2020 - Elsevier
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are responsible for
the onset of CDKL5 Deficiency Disorder (CDD), a neurological pathology characterised by …

Research progress on the pathogenesis of CDKL5 pathogenic variants and related encephalopathy

X Sun, T Wang - European Journal of Pediatrics, 2023 - Springer
Abstract Cyclin-dependent kinase-like 5 (CDKL5) is a gene encoding a serine/threonine
kinase that possesses an N-terminal catalytic domain and a large C-terminal domain and is …

Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice

A Viglione, G Sagona, F Carrara… - Human Molecular …, 2022 - academic.oup.com
Abstract Cyclin-dependent kinase-like 5 (Cdkl5) deficiency disorder (CDD) is a severe
neurodevelopmental condition caused by mutations in the X-linked Cdkl5 gene. CDD is …