Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice (Q33915332)

30 July 2017

title

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice (English)

1 reference

MECP2 duplication syndrome

30 July 2017

0 references

1 reference

Huda Y Zoghbi

0 references

Maria H Chahrour

0 references

Laura Dean Heckman

1 reference

30 July 2017

language of work or name

English

0 references

publication date

26 June 2014

1 reference

30 July 2017

1 reference

30 July 2017

1 reference

Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

MeCP2, a key contributor to neurological disease, activates and represses transcription

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

The story of Rett syndrome: from clinic to neurobiology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Simple and highly efficient BAC recombineering using galK selection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Identification of MeCP2 mutations in a series of females with autistic disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

DNA recognition by the methyl-CpG binding domain of MeCP2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

The solution structure of the domain from MeCP2 that binds to methylated DNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102243

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

5 July 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.02676

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.02676

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.02676

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.02676

Detection of fetal cells in transcervical samples using X22 marker.

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.02676

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.02676

The AT-hook-containing proteins SOB3/AHL29 and ESC/AHL27 are negative modulators of hypocotyl growth in Arabidopsis

21 January 2018

1 reference

https://api.crossref.org/works/10.7554%2FELIFE.02676

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24970834

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.7554/ELIFE.02676

1 reference

release_ilukzj4ai5g4zaekyxyslwpdhy

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ilukzj4ai5g4zaekyxyslwpdhy

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

4102243

1 reference

30 July 2017

1 reference