Mapping pathological phenotypes in a mouse model of CDKL5 disorder

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Mapping pathological phenotypes in a mouse model of CDKL5 disorder is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2014PLoSO...991613A
P356DOI10.1371/JOURNAL.PONE.0091613
P932PMC publication ID4023934
P698PubMed publication ID24838000
P5875ResearchGate publication ID262418900

P50authorElisabetta CianiQ56550093
Dominika FarleyQ57442510
Enrico CastroflorioQ57442523
Alexei L. VyssotskiQ37380988
Yang ZhanQ41655030
Maurizio GiustettoQ42175978
Tommaso PizzorussoQ42175985
P2093author name stringCamilla Mattucci
Cornelius T Gross
Claudia Fuchs
Davide Silingardi
Elena Amendola
Eleonora Calcagno
Giuseppina Lonetti
P2860cites workCDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeQ24303656
S6K1(-/-)/S6K2(-/-) mice exhibit perinatal lethality and rapamycin-sensitive 5'-terminal oligopyrimidine mRNA translation and reveal a mitogen-activated protein kinase-dependent S6 kinase pathwayQ24603083
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tailQ24651382
A focused and efficient genetic screening strategy in the mouse: identification of mutations that disrupt cortical developmentQ24798758
Neurotrophin signal transduction in the nervous systemQ27876223
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypesQ28236247
The story of Rett syndrome: from clinic to neurobiologyQ28256549
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machineryQ28257945
Seizures and electroencephalographic findings in CDKL5 mutations: case report and reviewQ28269052
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyQ28272644
Key clinical features to identify girls with CDKL5 mutationsQ28293847
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndromeQ28504458
CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signalingQ28574630
Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of miceQ28595061
Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFPQ29547505
Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturationQ29616327
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in miceQ29616328
MeCP2 mutation results in compartment-specific reductions in dendritic branching and spine density in layer 5 motor cortical neurons of YFP-H miceQ34193020
Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.Q51820369
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.Q51923623
Early onset seizures and Rett-like features associated with mutations in CDKL5.Q51928093
High throughput production of mouse monoclonal antibodies using antigen microarraysQ61755547
Widespread recombinase expression using FLPeR (flipper) miceQ73266365
Temporal aspects of contrast visual evoked potentials in the pigmented rat: effect of dark rearingQ73348632
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessmentQ34441265
The relevance of individual genetic background and its role in animal models of epilepsyQ35549275
Dissecting MECP2 function in the central nervous systemQ36286552
Ribosomal protein S6 phosphorylation: from protein synthesis to cell size.Q36470315
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.Q36504423
RAS/ERK signaling promotes site-specific ribosomal protein S6 phosphorylation via RSK and stimulates cap-dependent translationQ36745240
The role of MeCP2 in the brain.Q37896649
A Cre/loxP-deleter transgenic line in mouse strain 129S1/SvImJ.Q40744891
TrkA activation in the rat visual cortex by antirat trkA IgG prevents the effect of monocular deprivationQ43094500
Presence of visual head tracking differentiates normal sighted from retinal degenerate miceQ44002082
Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndromeQ46146028
Dorsal telencephalon-specific expression of Cre recombinase in PAC transgenic mice.Q47867280
Organ growth in Rett syndrome: a postmortem examination analysisQ48260356
Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null miceQ48299153
EEG gamma frequency and sleep-wake scoring in mice: comparing two types of supervised classifiersQ48324515
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expressionQ48667829
Evidence for both neuronal cell autonomous and nonautonomous effects of methyl-CpG-binding protein 2 in the cerebral cortex of female mice with Mecp2 mutationQ48789131
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P4510describes a project that usesImageJQ1659584
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectCDKL5 deficiency disorderQ40739448
P304page(s)e91613
P577publication date2014-05-16
P1433published inPLOS OneQ564954
P1476titleMapping pathological phenotypes in a mouse model of CDKL5 disorder
P478volume9

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cites work (P2860)
Q28079929A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.
Q64039595AMPA receptor dysregulation and therapeutic interventions in a mouse model of CDKL5 Deficiency Disorder
Q92761256Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder
Q35915948CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization
Q38946519CDKL5 deficiency entails sleep apneas in mice
Q39827058CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice.
Q41109322CDKL5 localizes at the centrosome and midbody and is required for faithful cell division
Q36055559Characterisation of CDKL5 Transcript Isoforms in Human and Mouse
Q62084107Chemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics
Q30390885Comprehensive behavioral analysis of RNG105 (Caprin1) heterozygous mice: Reduced social interaction and attenuated response to novelty
Q53828453Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both acquisition and long-term retention of spatial reference memory.
Q59303931Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome
Q64078571Functional and Structural Impairments in the Perirhinal Cortex of a Mouse Model of CDKL5 Deficiency Disorder Are Rescued by a TrkB Agonist
Q48599692HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder
Q55436457Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.
Q89460115Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons
Q39103694Lack of Cdkl5 Disrupts the Organization of Excitatory and Inhibitory Synapses and Parvalbumin Interneurons in the Primary Visual Cortex.
Q34097099Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.
Q48183034Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice.
Q47661198Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors
Q92782695Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
Q91678331Molecular and Synaptic Bases of CDKL5 Disorder
Q33752190Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder
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Q92144190Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation
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Q33762246Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
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Q89596064The green tea polyphenol epigallocatechin-3-gallate (EGCG) restores CDKL5-dependent synaptic defects in vitro and in vivo
Q55416149Utilizing Animal Models of Infantile Spasms.

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