Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder

CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder

(2018) Stefania Trazzi et al.   HUMAN MOLECULAR GENETICS

Loss of CDKL5 disrupts respiratory function in mice

(2018) Kun-Ze Lee et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

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

(2017) Isabella Barbiero et al.   HUMAN MOLECULAR GENETICS

Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors

(2017) Cian-Ling Jhang et al.   HUMAN MOLECULAR GENETICS

Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice

(2017) Raffaele Mazziotti et al.   HUMAN MOLECULAR GENETICS

The extracellular signal-regulated kinase 1/2 pathway in neurological diseases: A potential therapeutic target (Review)

(2017) Jing Sun et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice

(2017) Sheng Tang et al.   JOURNAL OF NEUROSCIENCE

CDKL5 deficiency entails sleep apneas in mice

(2017) Viviana Lo Martire et al.   JOURNAL OF SLEEP RESEARCH

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility

(2017) Kosuke Okuda et al.   NEUROBIOLOGY OF DISEASE

Accurate discrimination of the wake-sleep states of mice using non-invasive whole-body plethysmography

(2017) Stefano Bastianini et al.   Scientific Reports

Functional abilities in children and adults with the CDKL5 disorder

(2016) Stephanie Fehr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1

(2016) Grazia Della Sala et al.   BIOLOGICAL PSYCHIATRY

CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice

(2016) S. Sivilia et al.   GENES BRAIN AND BEHAVIOR

HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder

(2016) Stefania Trazzi et al.   HUMAN MOLECULAR GENETICS

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

(2016) Meghana Mangatt et al.   Orphanet Journal of Rare Diseases

Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex

(2016) Riccardo Pizzo et al.   Frontiers in Cellular Neuroscience

CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization

(2016) Mohammad Sarfaraz Nawaz et al.   PLoS One

Age-related neuroinflammation and changes in AKT-GSK-3β and WNT/ β-CATENIN signaling in rat hippocampus

(2015) Ana Maria Marques Orellana et al.   Aging-US

There is variability in the attainment of developmental milestones in the CDKL5 disorder

(2015) Stephanie Fehr et al.   Journal of Neurodevelopmental Disorders

Sequential Elution Interactome Analysis of the Mind Bomb 1 Ubiquitin Ligase Reveals a Novel Role in Dendritic Spine Outgrowth

(2015) Joseph Mertz et al.   MOLECULAR & CELLULAR PROTEOMICS

Inhibition of GSK3β rescues hippocampal development and learning in a mouse model of CDKL5 disorder

(2015) Claudia Fuchs et al.   NEUROBIOLOGY OF DISEASE

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome

(2015) Maria Isabel Alvarez-Mora et al.   Neurodegenerative Diseases

Search for New Phenomena in Dijet Angular Distributions in Proton-Proton Collisions ats=8  TeVMeasured with the ATLAS Detector

(2015) G. Aad et al.   PHYSICAL REVIEW LETTERS

Transient Blockade of ERK Phosphorylation in the Critical Period Causes Autistic Phenotypes as an Adult in Mice

(2015) Shinya Yufune et al.   Scientific Reports

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

(2014) Ying Zhao et al.   BMC Medical Genetics

Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling

(2014) Claudia Fuchs et al.   NEUROBIOLOGY OF DISEASE

Myocyte enhancer factor 2C regulation of hepatocellular carcinoma via vascular endothelial growth factor and Wnt/β-catenin signaling

(2014) X L Bai et al.   ONCOGENE

Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder

(2014) Elena Amendola et al.   PLoS One

Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder

(2013) Mari Sekiguchi et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

The role of ERK1, 2, and 5 in dopamine neuron survival during aging

(2013) Mayur S. Parmar et al.   NEUROBIOLOGY OF AGING

Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development

(2013) Y.-C. Zhu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent mutations in theCDKL5gene: Genotype-phenotype relationships

(2012) Nadia Bahi-Buisson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in theCDKL5gene

(2012) EVELINE E O HAGEBEUK et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

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

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice

(2012) I.-T. J. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy

(2012) Charlotte Kilstrup-Nielsen et al.   NEURAL PLASTICITY

In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer

(2011) B Cosci et al.   ENDOCRINE-RELATED CANCER

Blockade of the MEK/ERK signalling cascade by AS703026, a novel selective MEK1/2 inhibitor, induces pleiotropic anti-myeloma activity in vitro and in vivo

(2010) Kihyun Kim et al.   BRITISH JOURNAL OF HAEMATOLOGY

CDKL5, a Protein Associated with Rett Syndrome, Regulates Neuronal Morphogenesis via Rac1 Signaling

(2010) Q. Chen et al.   JOURNAL OF NEUROSCIENCE

Mutational spectrum ofCDKL5in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

(2009) C Nemos et al.   CLINICAL GENETICS

Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1

(2008) Isamu Kameshita et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail

(2008) Laura Rusconi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome

(2008) S. H. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA