Cyclin-dependent kinase-like 5 deficiency disorder: clinical review

HE Olson, ST Demarest, EM Pestana-Knight… - Pediatric …, 2019 - Elsevier
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …

Protein palmitoylation in cancer: molecular functions and therapeutic potential

B Zhou, Q Hao, Y Liang, E Kong - Molecular oncology, 2023 - Wiley Online Library
Protein S‐palmitoylation (hereinafter referred to as protein palmitoylation) is a reversible
lipid posttranslational modification catalyzed by the zinc finger DHHC‐type containing …

GABAergic neuronal IL-4R mediates T cell effect on memory

J Herz, Z Fu, K Kim, T Dykstra, M Wall, H Li… - Neuron, 2021 - cell.com
Mechanisms governing how immune cells and their derived molecules impact homeostatic
brain function are still poorly understood. Here, we elucidate neuronal mechanisms …

[HTML][HTML] SwissPalm: protein palmitoylation database

M Blanc, F David, L Abrami, D Migliozzi, F Armand… - …, 2015 - ncbi.nlm.nih.gov
Protein S-palmitoylation is a reversible post-translational modification that regulates many
key biological processes, although the full extent and functions of protein S-palmitoylation …

Autism spectrum disorder and epilepsy: disorders with a shared biology

BH Lee, T Smith, AR Paciorkowski - Epilepsy & Behavior, 2015 - Elsevier
There is an increasing recognition of clinical overlap in patients presenting with epilepsy
and autism spectrum disorder (ASD), and a great deal of new information regarding the …

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] Structural plasticity of dendritic spines: the underlying mechanisms and its dysregulation in brain disorders

KO Lai, NY Ip - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2013 - Elsevier
Dendritic spines are specialized structures on neuronal processes where the majority of
excitatory synapses are localized. Spines are highly dynamic, and their stabilization and …

Dendritic spine instability in a mouse model of CDKL5 disorder is rescued by insulin-like growth factor 1

G Della Sala, E Putignano, G Chelini, R Melani… - Biological …, 2016 - Elsevier
Background CDKL5 (cyclin-dependent kinase-like 5) is mutated in many severe
neurodevelopmental disorders, including atypical wRett syndrome. CDKL5 was shown to …

PSD-95 stabilizes NMDA receptors by inducing the degradation of STEP61

S Won, S Incontro, RA Nicoll… - Proceedings of the …, 2016 - National Acad Sciences
Phosphorylation regulates surface and synaptic expression of NMDA receptors (NMDARs).
Both the tyrosine kinase Fyn and the tyrosine phosphatase striatal-enriched protein tyrosine …

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility

K Okuda, S Kobayashi, M Fukaya, A Watanabe… - Neurobiology of …, 2017 - Elsevier
Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe
neurodevelopmental disorders accompanied by intractable epilepsies, ie West syndrome or …