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anti-Human CDKL5 Antikörper:
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Human Polyclonal CDKL5 Primary Antibody für WB - ABIN611314
Barbara, Wrana, Letarte: Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily. in The Journal of biological chemistry 1999
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Human Polyclonal CDKL5 Primary Antibody für ICC, IF - ABIN4297085
Ricciardi, Ungaro, Hambrock, Rademacher, Stefanelli, Brambilla, Sessa, Magagnotti, Bachi, Giarda, Verpelli, Kilstrup-Nielsen, Sala, Kalscheuer, Broccoli: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. in Nature cell biology 2012
Human Polyclonal CDKL5 Primary Antibody für IHC (p), ELISA - ABIN543776
Montini, Andolfi, Caruso, Buchner, Walpole, Mariani, Consalez, Trump, Ballabio, Franco: Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. in Genomics 1998
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mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype
The genetic etiology of Rett syndrome (RTT) without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT.
Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities. This variability may be related to underlying gene variants, with females with a late truncating variant having better levels of ability than those with no functional protein.
We have characterised the predominant brain isoform of CDKL5, a 9.7 kb transcript comprised of 18 exons with a large 6.6 kb 3'-untranslated region (UTR), which we name hCDKL5_1. In addition we describe new exonic regions and a range of novel splice and UTR isoforms
In the asymptomatic mother, the mutated copy of the CDKL5 gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2 in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 in a girl with infantile-onset seizures variant of Rett syndrome (RTT)
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 genes, respectively
Mutations in exon 8 of cyclin-dependent kinase-like 5 gene 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.
Its mutation causes Rett syndrome.(review)
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 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy.
aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys
3 known & 3 new (V966Im A1911V, H589H)mutations in the C-terminal domain of CDKL5 were found in Indian patients with Rett syndrome negative for MECP2.
study examines the presence of breathing and sleep abnormalities in a small series of patients with CDKL5 mutations
Study provides a comprehensive overview of neurobehavioral phenotypes of heterozygous female Cdkl5 +/- mice and demonstrates that the heterozygous female might be a valuable animal model in preclinical studies on CDKL5 disorder.
This study showed that the loss of CDKL5 causes breathing deficiency, supporting a CDKL5-mediated regulation of respiratory function in mice.
CDKL5 plays significant roles in regulating emotional behaviors especially on anxiety- and fear-related responses
Study generated the Cdkl5 KO mice, and identified hyperexcitability in response to NMDA and postsynaptic overaccumulation of GluN2B-containing NMDARs in the hippocampus. The GluN2B-selective antagonist ifenprodil abrogated the NMDA-induced hyperexcitability of Cdkl5 KO mice. These data indicate that CDKL5 plays an important role in controlling postsynaptic localization of the GluN2B-SAP102 complex in the hippocampus.
Findings support that CDKL5 plays a role in the comorbid features of autism and ADHD, and mice lacking CDKL5 may serve as an animal model to study the molecular and circuit mechanisms underlying autism-ADHD comorbidity.
data demonstrate that sleep apneas are a core feature of CDKL5 disorder and a respiratory biomarker of CDKL5 deficiency in mice, and suggest that sleep-disordered breathing should be evaluated routinely in CDKL5 patients
The data of this study demonstrate that dendritic spine stabilization is strongly regulated by CDKL5.
Our findings demonstrate that CDKL5 is an important regulator of synaptic function in glutamatergic neurons and serves a critical role in learning and memory.
Nuclear HDAC4 binds to chromatin as well as to MEF2A transcription factor, leading to histone deacetylation and altered neuronal gene expression. By using a Cdkl5 knockout (Cdkl5 -/Y) mouse model, we found that hypophosphorylated HDAC4 translocates to the nucleus of neural precursor cells, thereby reducing histone 3 acetylation.
Taken together, these results strongly suggested that DYRK1A bound to CDKL5 and phosphorylated it on Ser-308, thus interfering with its nuclear localization.
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 is the cytoplasmic substrate for CDKL5.
CDKL5 regulates signal transduction pathways and mediates autistic-like phenotypes.
a functional axis between MYCN 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 dynamics.
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