(Q37238774)

19 August 2017

Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum (English)

1 reference

ATP-binding cassette, sub-family C (CFTR/MRP), member 6a

19 August 2017

1 reference

GOA release 2020-03-11

5

Jouni Uitto

1 reference

19 August 2017

Yong Zhou

1

1 reference

19 August 2017

Qiujie Jiang

series ordinal

2

1 reference

19 August 2017

Shunsuke Takahagi

series ordinal

3

1 reference

19 August 2017

Changxia Shao

series ordinal

4

1 reference

19 August 2017

language of work or name

English

0 references

publication date

23 May 2013

1 reference

Journal of Investigative Dermatology

19 August 2017

1 reference

19 August 2017

133

1 reference

19 August 2017

12

1 reference

19 August 2017

2672-2677

1 reference

https://scigraph.springernature.com/pub.10.1038/jid.2013.234

19 August 2017

0 references

cites work

Ataluren as an agent for therapeutic nonsense suppression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Cancer syndromes and therapy by stop-codon readthrough

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Pseudoxanthoma elasticum, ocular manifestations, complications and treatment.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Zebrafish: a model system to study heritable skin diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

The abcc6a gene expression is required for normal zebrafish development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

PTC124 targets genetic disorders caused by nonsense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Glutamine is incorporated at the nonsense codons UAG and UAA in a suppressor-free Escherichia coli strain

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3800235

4 December 2018

Pseudoxanthoma elasticum

1 reference

12 December 2020

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

1 reference

12 December 2020

Rare heritable skin diseases: targets for regenerative medicine

1 reference

12 December 2020

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

1 reference

12 December 2020

Pseudoxanthoma elasticum: progress in research toward treatment: summary of the 2012 PXE international research meeting

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FJID.2013.234

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/JID.2013.234

1 reference

Dimensions Publication ID

19 August 2017

0 references

1 reference

19 August 2017

PubMed publication ID

23702584

1 reference