(Q34663623)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Jan Eike Wegener

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Cornelia Brendel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Valery Belakhov

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Jutta Gärtner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Igor Nudelman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Timor Baasov

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Peter Huppke

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

1 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

Journal of Molecular Medicine

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

389-398

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00109-010-0704-4

17 January 2020

exact match

0 references

cites work

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=3055984

Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Rett syndrome: North American database

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Reversal of neurological defects in a mouse model of Rett syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Aminoglycoside antibiotics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Aminoglycosides: nephrotoxicity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Rett syndrome: clinical peculiarities and biological mysteries

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

On a unusual brain atrophy syndrome in hyperammonemia in childhood

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-010-0704-4

Methyl deficiency causes reduction of the methyl-CpG-binding protein, MeCP2, in rat liver

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-010-0704-4

Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-010-0704-4

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055984

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

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21120444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21120444

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00109-010-0704-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120444%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference