(Q28743688)

English

Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations

scientific article (publication date: 2011)

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scholarly article

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Ex vivo treatment with a novel synthetic aminoglycoside NB54 in primary fibroblasts from Rett syndrome patients suppresses MECP2 nonsense mutations (English)

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7

object named as

Gideon Rechavi

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Ninette Amariglio

6

object named as

Ninette Amariglio

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5

object named as

Amos J Simon

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Manuela Vecsler

1

object named as

Manuela Vecsler

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Bruria Ben Zeev

2

object named as

Bruria Ben Zeev

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4

object named as

Yair Anikster

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9

object named as

Eva Gak

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author name string

Igor Nudelman

3

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Timor Baasov

8

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language of work or name

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publication date

2011

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6

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6

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e20733

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copyright license

Creative Commons Attribution 4.0 International

13 June 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

Essential role of brain-derived neurotrophic factor in adult hippocampal function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

16 March 2017

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

7 April 2017

Reversal of neurological defects in a mouse model of Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

7 April 2017

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

7 April 2017

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Aminoglycoside-mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Aminoglycoside antibiotics: old drugs and new therapeutic approaches

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Pharmacologic therapy for stop mutations: how much CFTR activity is enough?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Correction of genetic disease by making sense from nonsense

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

DNA methylation specifies chromosomal localization of MeCP2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

3 June 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020733

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020733

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020733

21 January 2018

Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020733

21 January 2018

Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020733

21 January 2018

BDNF regulates the maturation of inhibition and the critical period of plasticity in mouse visual cortex.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020733

21 January 2018

The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020733

21 January 2018

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

27 November 2018

Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

27 November 2018

Spectrum of MECP2 mutations in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

27 November 2018

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113846

27 November 2018

Rett syndrome: epidemiology and geographical variability

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695138

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695138

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695138

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695138

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695138

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0020733

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2011PLoSO...620733V

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PubMed publication ID

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