Molecular and Synaptic Bases of CDKL5 Disorder

scientific article published on 19 October 2018

Molecular and Synaptic Bases of CDKL5 Disorder is …
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scholarly articleQ13442814

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P356DOI10.1002/DNEU.22639
P698PubMed publication ID30246934

P50authorYong-Chuan ZhuQ91678326
P2093author name stringZhi-Qi Xiong
P2860cites workRecurrent mutations in the CDKL5 gene: genotype-phenotype relationships.Q54505733
Developments in neuronal cell cultureQ59050425
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brainQ60894792
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeQ24303656
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 regionQ24308698
The protein kinase complement of the human genomeQ24324497
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationQ24532056
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailQ24651382
Kalirin-7 controls activity-dependent structural and functional plasticity of dendritic spinesQ24677936
Genome-wide atlas of gene expression in the adult mouse brainQ26253934
Membrane-associated guanylate kinases regulate adhesion and plasticity at cell junctionsQ28256167
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machineryQ28257945
Inhibition of GSK3β rescues hippocampal development and learning in a mouse model of CDKL5 disorderQ28264533
Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1Q28268294
Shootin1: A protein involved in the organization of an asymmetric signal for neuronal polarizationQ28512224
CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signalingQ28574630
Atorvastatin enhances neurite outgrowth in cortical neurons in vitro via up-regulating the Akt/mTOR and Akt/GSK-3β signaling pathwaysQ28584332
NGL family PSD-95-interacting adhesion molecules regulate excitatory synapse formationQ28586738
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2Q28941210
Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine developmentQ28975458
GEF means go: turning on RHO GTPases with guanine nucleotide-exchange factorsQ29547630
Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturationQ29616327
The DNA methyltransferases of mammalsQ29617317
The postsynaptic architecture of excitatory synapses: a more quantitative viewQ29617941
Rho GTPases in neuronal morphogenesisQ29620432
Molecular mechanisms of dendritic spine morphogenesisQ29903592
Amphiphysin I antisense oligonucleotides inhibit neurite outgrowth in cultured hippocampal neurons.Q30176317
Amphiphysin I is associated with coated endocytic intermediates and undergoes stimulation-dependent dephosphorylation in nerve terminalsQ30176331
Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function.Q30438464
Polarized signaling endosomes coordinate BDNF-induced chemotaxis of cerebellar precursors.Q30486698
Mapping pathological phenotypes in a mouse model of CDKL5 disorderQ33623490
Recognition memory: what are the roles of the perirhinal cortex and hippocampus?Q33938467
Development of long-term dendritic spine stability in diverse regions of cerebral cortexQ33986592
Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.Q34097099
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphismsQ34144292
Actin cytoskeleton regulation in neuronal morphogenesis and structural plasticityQ34762533
The histone deacetylase HDAC4 regulates long-term memory in DrosophilaQ35071111
Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5Q35080413
The Rac1 guanine nucleotide exchange factor Tiam1 mediates EphB receptor-dependent dendritic spine developmentQ35758529
CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal PolarizationQ35915948
Characterisation of CDKL5 Transcript Isoforms in Human and MouseQ36055559
Nucleokinesis in neuronal migrationQ36121319
An essential role for histone deacetylase 4 in synaptic plasticity and memory formationQ36344938
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.Q36504423
The centrosome in neuronal developmentQ36786169
Strategies for the identification of kinase substrates using analog-sensitive kinasesQ37671333
Early events in axon/dendrite polarizationQ38020191
CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibilityQ38688252
Subcellular distribution of cyclin-dependent kinase-like 5 (CDKL5) is regulated through phosphorylation by dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A).Q38731458
CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.Q39291385
CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice.Q39827058
Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1.Q39922592
CDKL5 localizes at the centrosome and midbody and is required for faithful cell divisionQ41109322
HDAC4 governs a transcriptional program essential for synaptic plasticity and memoryQ41209497
Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.Q41745546
Synaptic strength regulated by palmitate cycling on PSD-95.Q43960568
Neuronal activity-dependent nucleocytoplasmic shuttling of HDAC4 and HDAC5.Q44365117
Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.Q46439424
Regulation of dendritic morphogenesis by Ras-PI3K-Akt-mTOR and Ras-MAPK signaling pathways.Q46843627
Control of dendritic arborization by the phosphoinositide-3'-kinase-Akt-mammalian target of rapamycin pathway.Q46843629
Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviorsQ47661198
Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice.Q48183034
Characterisation of Cdkl5 transcript isoforms in rat.Q48399614
Dendritic Spine "Dysgenesis" and Mental RetardationQ48497882
The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complexQ48548114
HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorderQ48599692
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderQ48766875
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.Q49060228
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.Q50305506
CDKL5 PROTEIN SUBSTITUTION THERAPY RESCUES NEUROLOGICAL PHENOTYPES OF A MOUSE MODEL OF CDKL5 DISORDER.Q50535044
Identification of Direct Kinase Substrates via Kinase Assay-Linked Phosphoproteomics.Q50910789
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.Q51923623
The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5.Q53075656
Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both acquisition and long-term retention of spatial reference memory.Q53828453
P433issue1
P921main subjectCDKL5 deficiency disorderQ40739448
P1104number of pages12
P304page(s)8-19
P577publication date2018-10-19
P1433published inDevelopmental NeurobiologyQ15716734
P1476titleMolecular and Synaptic Bases of CDKL5 Disorder
P478volume79

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cites work (P2860)
Q93386983Caregiver's perception of epilepsy treatment, quality of life and comorbidities in an international cohort of CDKL5 patients
Q64939210Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Q89460115Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons
Q92782695Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
Q89945289Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
Q90748674Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic
Q91174762Synaptic Formation, Neural Circuits and Neurodevelopmental Disorders Controlled by Signaling, Translation, and Epigenetic Regulation
Q89596064The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo