scholarly article | Q13442814 |
P50 | author | Vania Broccoli | Q54438131 |
Nicoletta Landsberger | Q55266973 | ||
P2093 | author name string | Laura Rusconi | |
Charlotte Kilstrup-Nielsen | |||
Ilaria Bertani | |||
Laura Giudici | |||
Lisa Salvatoni | |||
P2860 | cites work | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 | Q22337290 |
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation | Q24300800 | ||
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome | Q24303656 | ||
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region | Q24308698 | ||
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex | Q24324026 | ||
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Q24532056 | ||
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
MeCP2, a key contributor to neurological disease, activates and represses transcription | Q24647533 | ||
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes | Q24670122 | ||
CRM1 is an export receptor for leucine-rich nuclear export signals | Q27860453 | ||
The story of Rett syndrome: from clinic to neurobiology | Q28256549 | ||
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy | Q28256843 | ||
The three stages of epilepsy in patients with CDKL5 mutations | Q28268280 | ||
MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution | Q28273844 | ||
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation | Q28509347 | ||
MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions | Q28511729 | ||
DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation | Q28591717 | ||
Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain | Q28909795 | ||
The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells | Q28941207 | ||
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2 | Q28941210 | ||
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription | Q29547568 | ||
Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation | Q29616327 | ||
Analysis and prediction of leucine-rich nuclear export signals | Q29619228 | ||
Neuropathology of Rett syndrome | Q30703376 | ||
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases | Q34056069 | ||
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. | Q34098728 | ||
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots | Q34146268 | ||
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms | Q35447640 | ||
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. | Q36930153 | ||
Rett syndrome: Criteria for inclusion and exclusion | Q40562627 | ||
The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation | Q40690782 | ||
The clinical pattern of the Rett syndrome | Q41934117 | ||
MeCP2 preferentially binds to methylated linker DNA in the absence of the terminal tail of histone H3 and independently of histone acetylation | Q43863138 | ||
Rett variants: a suggested model for inclusion criteria | Q50304366 | ||
A methyl-CpG-binding protein 2-enhanced green fluorescent protein reporter mouse model provides a new tool for studying the neuronal basis of Rett syndrome. | Q50645456 | ||
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. | Q51907594 | ||
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. | Q51923623 | ||
Early onset seizures and Rett-like features associated with mutations in CDKL5. | Q51928093 | ||
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. | Q54493491 | ||
P433 | issue | 44 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | cell biology | Q7141 |
P304 | page(s) | 30101-11 | |
P577 | publication date | 2008-10-31 | |
P1433 | published in | Journal of Biological Chemistry | Q867727 |
P1476 | title | CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail | |
P478 | volume | 283 |
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Q60894792 | An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain |
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Q35533684 | CAGE-defined promoter regions of the genes implicated in Rett Syndrome. |
Q89805320 | CDKL5 Deficiency Disorder-A Complex Epileptic Encephalopathy |
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Q50305506 | CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. |
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Q41109322 | CDKL5 localizes at the centrosome and midbody and is required for faithful cell division |
Q36642996 | CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas |
Q39291385 | CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells. |
Q28574630 | CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling |
Q36006599 | CDKL5-Related Disorders: From Clinical Description to Molecular Genetics |
Q36055559 | Characterisation of CDKL5 Transcript Isoforms in Human and Mouse |
Q62084107 | Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics |
Q64939210 | Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. |
Q50304287 | Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders |
Q38814364 | Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson's disease revealed different epigenetic patterns in peripheral blood mononuclear cells |
Q64099718 | Epilepsy and genetic in Rett syndrome: A review |
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Q35377977 | Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation |
Q35173644 | Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders |
Q38164570 | Genetics, molecular biology, and phenotypes of x-linked epilepsy |
Q42119461 | Gestational Age and Sex Influence the Susceptibility of Human Neural Progenitor Cells to Low Levels of MeHg. |
Q34231583 | GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells |
Q48599692 | HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder |
Q55436457 | Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder. |
Q89460115 | Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons |
Q33811032 | Involvement of cyclin-dependent kinase-like 2 in cognitive function required for contextual and spatial learning in mice. |
Q39103694 | Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex. |
Q34097099 | Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling. |
Q48183034 | Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice. |
Q48445847 | Mapping an X-linked locus that influences heat-induced febrile seizures in mice |
Q33623490 | Mapping pathological phenotypes in a mouse model of CDKL5 disorder |
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Q28910354 | Methyl-CpG binding protein 2 (MeCP2) localizes at the centrosome and is required for proper mitotic spindle organization |
Q47661198 | Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors |
Q92782695 | Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder? |
Q91678331 | Molecular and Synaptic Bases of CDKL5 Disorder |
Q33752190 | Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder |
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Q42681086 | Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome |
Q28236247 | Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes |
Q28975458 | Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development |
Q54505733 | Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. |
Q33762246 | Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice |
Q92160931 | Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder |
Q92874536 | Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy |
Q38125969 | Synaptic plasticity and signaling in Rett syndrome. |
Q35080413 | Synaptic synthesis, dephosphorylation, and degradation: a novel paradigm for an activity-dependent neuronal control of CDKL5 |
Q89596064 | The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo |
Q36169407 | The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications |
Q38118810 | The neurobiology of X-linked intellectual disability. |
Q48548114 | The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex |
Q35053870 | There is variability in the attainment of developmental milestones in the CDKL5 disorder. |
Q28270699 | What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy |
Q35555588 | iPS cells to model CDKL5-related disorders. |