CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. (Q50305506)

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scientific article published on 26 August 2012

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English	CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.	scientific article published on 26 August 2012

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scholarly article

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12 February 2020

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

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Cyclin dependent kinase like 5

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GOA release 2020-03-11

regulation of postsynapse organization

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GOA release 2020-03-11

Alessandro Sessa

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Chiara Verpelli

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Vera M. Kalscheuer

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1

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Federica Ungaro

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Nils Rademacher

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Charlotte Kilstrup-Nielsen

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Melanie Hambrock

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Gilda Stefanelli

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Dario Brambilla

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Cinzia Magagnotti

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Elisa Giarda

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26 August 2012

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Nature Cell Biology

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911-923

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describes a project that uses

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based on heuristic

inferred from PubMed Central ID database lookup

https://scigraph.springernature.com/pub.10.1038/ncb2566

0 references

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized

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21 January 2018

The story of Rett syndrome: from clinic to neurobiology

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

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Mechanisms of disease: neurogenetics of MeCP2 deficiency

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Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

1 reference

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21 January 2018

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FNCB2566

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

1 reference

https://api.crossref.org/works/10.1038%2FNCB2566

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.

1 reference

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

1 reference

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Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

1 reference

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Key clinical features to identify girls with CDKL5 mutations

1 reference

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Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

1 reference

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Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

1 reference

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CDKL5 alterations lead to early epileptic encephalopathy in both genders.

1 reference

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Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

1 reference

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21 January 2018

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

1 reference

https://api.crossref.org/works/10.1038%2FNCB2566

21 January 2018

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCB2566

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FNCB2566

21 January 2018

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

1 reference

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21 January 2018

CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling

1 reference

https://api.crossref.org/works/10.1038%2FNCB2566

21 January 2018

Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation

1 reference

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Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

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The NGL family of leucine-rich repeat-containing synaptic adhesion molecules

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The netrin-G1 ligand NGL-1 promotes the outgrowth of thalamocortical axons

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NGL family PSD-95-interacting adhesion molecules regulate excitatory synapse formation

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A tissue-specific atlas of mouse protein phosphorylation and expression

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Enhanced long-term potentiation and impaired learning in mice with mutant postsynaptic density-95 protein

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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

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Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome

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A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

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Female human iPSCs retain an inactive X chromosome

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Characterization of the proteome, diseases and evolution of the human postsynaptic density.

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Dendritic spines: structure, dynamics and regulation

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Trans-synaptic adhesion between NGL-3 and LAR regulates the formation of excitatory synapses

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21 January 2018

Synaptic adhesion molecules and PSD-95.

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21 January 2018

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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Binding of the inward rectifier K+ channel Kir 2.3 to PSD-95 is regulated by protein kinase A phosphorylation

1 reference

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21 January 2018

Regulation of the NMDA receptor complex and trafficking by activity-dependent phosphorylation of the NR2B subunit PDZ ligand

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21 January 2018

Serine phosphorylation of ephrinB2 regulates trafficking of synaptic AMPA receptors

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Integration of biochemical signalling in spines

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Association of polymorphisms in the haplotype block spanning the alternatively spliced exons of the NTNG1 gene at 1p13.3 with schizophrenia in Japanese populations

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based on heuristic

inferred from PubMed ID database lookup

Neurotransmitters drive combinatorial multistate postsynaptic density networks.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22922712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The postsynaptic density

1 reference

https://pubmed.ncbi.nlm.nih.gov/22922712

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/NCB2566

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22922712%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

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12 February 2020

1 reference

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12 February 2020

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