(Q36907558)

English

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

scientific article published on 2 June 2010

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

17 August 2017

Becker muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Richard S Finkel

1

1 reference

Europe PubMed Central

17 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

2 June 2010

1 reference

Europe PubMed Central

17 August 2017

Journal of Child Neurology

1 reference

Europe PubMed Central

17 August 2017

25

1 reference

Europe PubMed Central

17 August 2017

9

1 reference

Europe PubMed Central

17 August 2017

1158-1164

1 reference

Europe PubMed Central

17 August 2017

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Nonaminoglycoside compounds induce readthrough of nonsense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

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=3674569

29 September 2017

A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Update on the management of Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

The clinical impact of pharmacogenetics on the treatment of epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Glucocorticoid corticosteroids for Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

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=3674569

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Processing and assembly of the dystrophin glycoprotein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

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=3674569

29 September 2017

Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Dystrophin protects the sarcolemma from stresses developed during muscle contraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Phenotypic suppression of nonsense mutants in yeast by aminoglycoside antibiotics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

Phenotypic suppression and misreading in Saccharomyces cerevisiae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

29 September 2017

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

27 June 2018

Influence of codon context on UGA suppression and readthrough

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

27 June 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=3674569

4 September 2018

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

4 September 2018

A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

4 September 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=3674569

4 September 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=3674569

4 September 2018

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3674569

4 December 2018

Stop is not the end: physiological implications of translational readthrough

1 reference

https://pubmed.ncbi.nlm.nih.gov/20519671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

https://pubmed.ncbi.nlm.nih.gov/20519671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://pubmed.ncbi.nlm.nih.gov/20519671

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/20519671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

When running a stop sign may be a good thing

1 reference

https://pubmed.ncbi.nlm.nih.gov/20519671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The muscular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20519671

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1177/0883073810371129

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

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