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The genetic etiology of Rett syndrome (RTT) without MECP2, CDKL5, and FOXG1 (显示 FOXG1 ELISA试剂盒) 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 (显示 UTS2R ELISA试剂盒)), which we name hCDKL5_1. In addition we describe new exonic regions and a range of novel splice and UTR (显示 UTS2R ELISA试剂盒) 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 (显示 IQSEC2 ELISA试剂盒) in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 (显示 KCNA2 ELISA试剂盒) 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 (显示 FOXG1 ELISA试剂盒) genes, respectively
Mutations in exon 8 of cyclin-dependent kinase-like 5 gene (显示 GPD1 ELISA试剂盒) 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.
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 (显示 HDAC5 ELISA试剂盒) binds to chromatin as well as to MEF2A (显示 MEF2A ELISA试剂盒) 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 (显示 HDAC5 ELISA试剂盒) translocates to the nucleus of neural precursor cells, thereby reducing histone 3 acetylation.
Taken together, these results strongly suggested that DYRK1A (显示 DYRK1A ELISA试剂盒) bound to CDKL5 and phosphorylated it on Ser (显示 SIGLEC1 ELISA试剂盒)-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 (显示 AMPH ELISA试剂盒) is the cytoplasmic substrate for CDKL5.
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