(Q35603659)

9 August 2017

title

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes (English)

1 reference

9 August 2017

5

Katherina Walz

1 reference

9 August 2017

Bredford Kerr

1

1 reference

9 August 2017

Jessica Soto C

2

1 reference

9 August 2017

Mauricio Saez

3

1 reference

9 August 2017

Alexander Abrams

4

1 reference

9 August 2017

Juan I Young

6

1 reference

9 August 2017

publication date

10 August 2011

1 reference

European Journal of Human Genetics

9 August 2017

published in

1 reference

9 August 2017

volume

20

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9 August 2017

issue

1

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9 August 2017

page(s)

69-76

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MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

The story of Rett syndrome: from clinic to neurobiology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

The implications of alternative splicing in the ENCODE protein complement

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Rett syndrome: clinical review and genetic update

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Simple sequence repeats as a source of quantitative genetic variation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Differential distribution of the MeCP2 splice variants in the postnatal mouse brain

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Deleterious mutations in exon 1 of MECP2 in Rett syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234513

A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21829232

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.145

1 reference

9 August 2017

1 reference

9 August 2017

1 reference