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The results suggested the mutant CDKL5 was responsible for the Rett syndrome disease.
Rett syndrome with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 (show FOXG1 ELISA Kits) genes, respectively
Mutations in exon 8 of cyclin-dependent kinase-like 5 gene (show GPD1 ELISA Kits) were determined to be disease-causing in epileptic encephalopathy.
study presents the genotype of 2 sisters, a CDKL5 mutation c. 283-3_290del, but different phenotype
Data suggest that the increased dosage of cyclin dependent kinase like 5 protein(CDKL5) might have affected interactions of this kinase with its substrates, leading to perturbation of neurodevelopmental and neurobehavioral abnormalities.
It was indicated that CDKL5 controls excitatory synaptic transmission and the conditions associated with CDKL5 deviation in man indicates synaptic abnormalities.
CDKL5 gene mutations accounted for 5.4% of boys with early onset epileptic encephalopathy
CDKL5 gene is not useful in practical molecular diagnosis of atypical Rett syndrome.
Mutations in the CDKL5 gene associtaed with Hanefield variants of Rett syndrome and early-onset epileptic encephalopathies.
study described the clinical condition and characterization of two first Brazilian patients with CDKL5 mutations, including the first Brazilian case of atypical Rett related to abnormalities in this gene
CDKL5 deletion during development more markedly impairs the establishment of a correct GABAergic cerebellar network than that of glutamatergic one, leading to the behavioural symptoms associated with CDKL5 mutation.
these results point to a role of CDKL5 in the early steps of neuronal differentiation that can be explained, at least in part, by its association with shootin1.
Findings highlight a critical role of CDKL5 in the fundamental processes of brain development, namely neuronal precursor proliferation, survival and maturation
Amph1 (show AMPH ELISA Kits) is the cytoplasmic substrate for CDKL5.
CDKL5 regulates signal transduction pathways and mediates autistic-like phenotypes.
a functional axis between MYCN (show MYCN ELISA Kits) and CDKL5 governing both neuron proliferation rate and differentiation.
CDKL5 is localized at excitatory synapses and contributes to correct dendritic spine structure and synapse activity.
both subcellular localization and expression of CDKL5 are modulated by the activation of extrasynaptic N-methyl-D-aspartate receptors and suggest regulation of CDKL5 by cell death pathways.
CDKL5 is involved in pre-mRNA processing, by controlling splicing factor (show SLU7 ELISA Kits) dynamics.
CDKL5 phosphorylation is required for its entrance into the nucleus whereas a portion of the COOH-terminal domain is responsible for a stable residency in this cellular compartment probably through protein-protein interactions
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized.
cyclin-dependent kinase-like 5
, cyclin-dependent kinase-like 5-like
, cyclin dependent kinase 5 transcript
, serine/threonine kinase 9
, serine/threonine-protein kinase 9