about
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardationCDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeMeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous MechanismsCDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machineryWhat we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyMethyl-CpG binding protein 2 (MeCP2) localizes at the centrosome and is required for proper mitotic spindle organizationThe MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization.MeCP2 Related Studies Benefit from the Use of CD1 as Genetic Background.Characterisation of CDKL5 Transcript Isoforms in Human and MouseBrain phosphorylation of MeCP2 at serine 164 is developmentally regulated and globally alters its chromatin associationRett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.PBX1 nuclear export is regulated independently of PBX-MEINOX interaction by PKA phosphorylation of the PBC-B domain.Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms.CDKL5 localizes at the centrosome and midbody and is required for faithful cell division.A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction.The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex.A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5.Rescue of prepulse inhibition deficit and brain mitochondrial dysfunction by pharmacological stimulation of the central serotonin receptor 7 in a mouse model of CDKL5 Deficiency DisorderA Novel Mecp2 Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett SyndromeGenetics and mechanisms of disease in Rett syndrome
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Charlotte Kilstrup-Nielsen
@ast
Charlotte Kilstrup-Nielsen
@en
Charlotte Kilstrup-Nielsen
@es
Charlotte Kilstrup-Nielsen
@nl
type
label
Charlotte Kilstrup-Nielsen
@ast
Charlotte Kilstrup-Nielsen
@en
Charlotte Kilstrup-Nielsen
@es
Charlotte Kilstrup-Nielsen
@nl
prefLabel
Charlotte Kilstrup-Nielsen
@ast
Charlotte Kilstrup-Nielsen
@en
Charlotte Kilstrup-Nielsen
@es
Charlotte Kilstrup-Nielsen
@nl
P106
P1153
7801364541
P31
P496
0000-0003-4977-4077