CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
about
The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum DisordersFunctional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardationMethyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosisNTNG1 mutations are a rare cause of Rett syndromeCDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailThe odyssey of MeCP2 and parental imprintingInvestigation of Rett syndrome using pluripotent stem cellsGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsPathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyPrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeKey clinical features to identify girls with CDKL5 mutationsPalmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine developmentDeletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotypeMapping pathological phenotypes in a mouse model of CDKL5 disorderMolecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.Involvement of cyclin-dependent kinase-like 2 in cognitive function required for contextual and spatial learning in mice.The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.Immune dysfunction in Rett syndrome patients revealed by high levels of serum anti-N(Glc) IgM antibody fraction.Genetics and pathophysiology of mental retardation.Drosophila modeling of heritable neurodevelopmental disordersGenetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models.Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5Investigation of modifier genes within copy number variations in Rett syndromeTrends in the diagnosis of Rett syndrome in Australia.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersExtrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation.CAGE-defined promoter regions of the genes implicated in Rett Syndrome.Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.iPS cells to model CDKL5-related disorders.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAsCDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization.Adult Phenotypes in Angelman- and Rett-Like Syndromes.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil
P2860
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P2860
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@ast
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@en
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@en-gb
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@nl
type
label
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@ast
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@en
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@en-gb
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@nl
prefLabel
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@ast
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@en
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@en-gb
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
CDKL5 belongs to the same mole ...... izure variant of Rett syndrome
@en
P2093
Anna Bergo
Chiara Pescucci
Elena Colombo
Elisa Scala
Fabrizio Bolognese
Gianfranco Badaracco
Ilaria Longo
Michele Zappella
Paolo Balestri
Rossella Caselli
P2860
P304
P3181
P356
10.1093/HMG/DDI198
P407
P50
P577
2005-05-25T00:00:00Z