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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …