(Q24300800)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

Cyclin dependent kinase like 5

29 December 2019

main subject

1 reference

protein autophosphorylation

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Greta Forlani

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Nicoletta Landsberger

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

Charlotte Kilstrup-Nielsen

29 December 2019

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Ilaria Bertani

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Laura Rusconi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Fabrizio Bolognese

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Barbara Conca

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Lucia De Monte

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Gianfranco Badaracco

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

English

0 references

publication date

24 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

29 December 2019

number of pages

9

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

281

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

32048-32056

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

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

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Early onset seizures and Rett-like features associated with mutations in CDKL5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

ERK7 is an autoactivated member of the MAPK family

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Structural basis of cyclin-dependent kinase activation by phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Activation mechanism of the MAP kinase ERK2 by dual phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Glucose-induced expression of the cyclin-dependent protein kinase 5 activator p35 involved in Alzheimer's disease regulates insulin gene transcription in pancreatic beta-cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

Extracellular signal-regulated kinase 7 (ERK7), a novel ERK with a C-terminal domain that regulates its activity, its cellular localization, and cell growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

14-3-3beta binds to big mitogen-activated protein kinase 1 (BMK1/ERK5) and regulates BMK1 function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M606325200

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1074/JBC.M606325200

2 references

Consolidated OpenCitations Corpus – April 2017

704150

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16935860%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

704150

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

704150