Proliferation and differentiation deficits are a major convergence point for neurodevelopmental disorders
C Ernst - Trends in neurosciences, 2016 - cell.com
Several lines of evidence suggest that proliferation and differentiation in neural stem cells
(NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most …
(NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most …
[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 …
in a neurodevelopmental disorder characterized by early-onset intractable seizures, severe …
Molecular and synaptic bases of CDKL5 disorder
YC Zhu, ZQ Xiong - Developmental Neurobiology, 2019 - Wiley Online Library
The X‐linked gene cyclin‐dependent kinase‐like 5 (CDKL5) encodes a serine/threonine
kinase abundantly expressed in the brain. Mutations in CDKL5 have been associated with …
kinase abundantly expressed in the brain. Mutations in CDKL5 have been associated with …
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 …
caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene …
HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder
S Trazzi, C Fuchs, R Viggiano… - Human molecular …, 2016 - academic.oup.com
Abstract Cyclin-dependent kinase-like 5 (CDKL5) is a Ser/Thr protein kinase predominantly
expressed in the brain. Mutations of the CDKL5 gene lead to CDKL5 disorder, a …
expressed in the brain. Mutations of the CDKL5 gene lead to CDKL5 disorder, a …
Sex differences in brain disorders
M Ziemka-Nalecz, P Pawelec, K Ziabska… - International Journal of …, 2023 - mdpi.com
A remarkable feature of the brain is its sexual dimorphism. Sexual dimorphism in brain
structure and function is associated with clinical implications documented previously in …
structure and function is associated with clinical implications documented previously in …
There is variability in the attainment of developmental milestones in the CDKL5 disorder
S Fehr, H Leonard, G Ho, S Williams, N de Klerk… - Journal of …, 2015 - Springer
Background Individuals with the CDKL5 disorder have been described as having severely
impaired development. A few individuals have been reported having attained more …
impaired development. A few individuals have been reported having attained more …
From molecules to medicines: the dawn of targeted therapies for genetic epilepsies
ST Demarest, A Brooks-Kayal - Nature reviews Neurology, 2018 - nature.com
Precision medicine is the treatment of patients with therapy targeted to their specific
pathophysiology. This lofty ideal currently has limited application in clinical practice …
pathophysiology. This lofty ideal currently has limited application in clinical practice …
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 …
disease caused by mutations in the CDKL5 gene. The consequent misexpression of the …