CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

scientific article

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail is …
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scholarly articleQ13442814

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P356DOI10.1074/JBC.M804613200
P3181OpenCitations bibliographic resource ID704129
P932PMC publication ID2662074
P698PubMed publication ID18701457

P50authorVania BroccoliQ54438131
Nicoletta LandsbergerQ55266973
P2093author name stringLaura Rusconi
Charlotte Kilstrup-Nielsen
Ilaria Bertani
Laura Giudici
Lisa Salvatoni
P2860cites workRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardationQ24300800
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeQ24303656
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 regionQ24308698
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complexQ24324026
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationQ24532056
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
MeCP2, a key contributor to neurological disease, activates and represses transcriptionQ24647533
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genesQ24670122
CRM1 is an export receptor for leucine-rich nuclear export signalsQ27860453
The story of Rett syndrome: from clinic to neurobiologyQ28256549
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathyQ28256843
The three stages of epilepsy in patients with CDKL5 mutationsQ28268280
MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolutionQ28273844
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturationQ28509347
MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisionsQ28511729
DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene RegulationQ28591717
Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brainQ28909795
The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cellsQ28941207
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2Q28941210
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcriptionQ29547568
Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturationQ29616327
Analysis and prediction of leucine-rich nuclear export signalsQ29619228
Neuropathology of Rett syndromeQ30703376
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 casesQ34056069
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 hotspotsQ34146268
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsQ35447640
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.Q36930153
Rett syndrome: Criteria for inclusion and exclusionQ40562627
The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylationQ40690782
The clinical pattern of the Rett syndromeQ41934117
MeCP2 preferentially binds to methylated linker DNA in the absence of the terminal tail of histone H3 and independently of histone acetylationQ43863138
Rett variants: a suggested model for inclusion criteriaQ50304366
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
P433issue44
P407language of work or nameEnglishQ1860
P921main subjectcell biologyQ7141
P304page(s)30101-11
P577publication date2008-10-31
P1433published inJournal of Biological ChemistryQ867727
P1476titleCDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail
P478volume283

Reverse relations

cites work (P2860)
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