List of works - Charlotte Kilstrup-Nielsen

A 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 Syndrome

scientific article published on 06 November 2018

A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction.

scientific article

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

scientific article

Brain phosphorylation of MeCP2 at serine 164 is developmentally regulated and globally alters its chromatin association

scientific article published on 21 June 2016

CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization

scientific article published on 5 February 2016

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

scientific article

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

scientific article published on 26 August 2012

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

scientific article

CDKL5 localizes at the centrosome and midbody and is required for faithful cell division

scientific article published on 24 July 2017

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse

scientific article

Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms.

scientific article published on 15 May 2015

Extrasynaptic N-Methyl-d-aspartate (NMDA) Receptor Stimulation Induces Cytoplasmic Translocation of the CDKL5 Kinase and Its Proteasomal Degradation ⬇️

scientific article published on August 5, 2011

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

scientific article

Genetics and mechanisms of disease in Rett syndrome

article

MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms

scientific article

MeCP2 Related Studies Benefit from the Use of CD1 as Genetic Background.

scientific article

MeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?

scientific article

Methyl-CpG binding protein 2 (MeCP2) localizes at the centrosome and is required for proper mitotic spindle organization

scientific journal article

PBX1 nuclear export is regulated independently of PBX-MEINOX interaction by PKA phosphorylation of the PBC-B domain.

scientific article

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 Disorder

article

Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.

scientific article published on 02 March 2014

Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5

scientific article

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

scientific article

The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5.

scientific article published on 30 March 2018

The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex

scientific article

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy

scientific article

List of works by Charlotte Kilstrup-Nielsen

A 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 Syndrome

A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction.

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

Brain phosphorylation of MeCP2 at serine 164 is developmentally regulated and globally alters its chromatin association

CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

CDKL5 localizes at the centrosome and midbody and is required for faithful cell division

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse

Defects During Mecp2 Null Embryonic Cortex Development Precede the Onset of Overt Neurological Symptoms.

Extrasynaptic N-Methyl-d-aspartate (NMDA) Receptor Stimulation Induces Cytoplasmic Translocation of the CDKL5 Kinase and Its Proteasomal Degradation ⬇️

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

Genetics and mechanisms of disease in Rett syndrome

MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms

MeCP2 Related Studies Benefit from the Use of CD1 as Genetic Background.

MeCP2 post-translational modifications: a mechanism to control its involvement in synaptic plasticity and homeostasis?

Methyl-CpG binding protein 2 (MeCP2) localizes at the centrosome and is required for proper mitotic spindle organization

PBX1 nuclear export is regulated independently of PBX-MEINOX interaction by PKA phosphorylation of the PBC-B domain.

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 Disorder

Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action.

Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

The antidepressant tianeptine reverts synaptic AMPA receptor defects caused by deficiency of CDKL5.

The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy