(Q50305506)

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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Europe PubMed Central

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12 February 2020

Cyclin dependent kinase like 5

1 reference

GOA release 2020-03-11

regulation of postsynapse organization

1 reference

GOA release 2020-03-11

Alessandro Sessa

7

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12 February 2020

Chiara Verpelli

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12 February 2020

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12 February 2020

Vera M. Kalscheuer

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12 February 2020

1

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12 February 2020

Federica Ungaro

2

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12 February 2020

Nils Rademacher

4

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12 February 2020

9

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12 February 2020

Charlotte Kilstrup-Nielsen

12

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12 February 2020

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12 February 2020

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Melanie Hambrock

3

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12 February 2020

Gilda Stefanelli

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12 February 2020

Dario Brambilla

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12 February 2020

Cinzia Magagnotti

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12 February 2020

Elisa Giarda

10

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12 February 2020

publication date

26 August 2012

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12 February 2020

Nature Cell Biology

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12 February 2020

14

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12 February 2020

9

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12 February 2020

911-923

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12 February 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6485419/fullTextXML

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

1 reference

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

21 January 2018

The story of Rett syndrome: from clinic to neurobiology

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Mechanisms of disease: neurogenetics of MeCP2 deficiency

1 reference

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

21 January 2018

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

1 reference

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

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

21 January 2018

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Key clinical features to identify girls with CDKL5 mutations

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

1 reference

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

21 January 2018

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

1 reference

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

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

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

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

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

A tissue-specific atlas of mouse protein phosphorylation and expression

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Female human iPSCs retain an inactive X chromosome

1 reference

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

21 January 2018

Long-term culture and differentiation of CNS precursors derived from anterior human neural rosettes following exposure to ventralizing factors

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Dendritic spines: structure, dynamics and regulation

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Synaptic adhesion molecules and PSD-95.

1 reference

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

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).

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Serine phosphorylation of ephrinB2 regulates trafficking of synaptic AMPA receptors

1 reference

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

21 January 2018

Integration of biochemical signalling in spines

1 reference

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

21 January 2018

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

1 reference

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

12 December 2020

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

PMC publication ID

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

12 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

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

12 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

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

12 February 2020

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