Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model (Q38762930)

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scientific article published on 21 June 2016

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English	Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model	scientific article published on 21 June 2016

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 September 2017

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model (English)

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Europe PubMed Central

PubMed publication ID

6 September 2017

Vasiliki Kalatzis

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329764 AND SRC:MED&resulttype=core&format=json

9 June 2020

Mariya Moosajee

1

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9 June 2020

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Dhani Tracey-White

2

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9 June 2020

Matthew Smart

3

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9 June 2020

Marla Weetall

4

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9 June 2020

Simona Torriano

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9 June 2020

Lyndon da Cruz

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9 June 2020

Peter Coffey

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9 June 2020

Andrew R Webster

9

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9 June 2020

Ellen Welch

10

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9 June 2020

publication date

21 June 2016

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6 September 2017

Human Molecular Genetics

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9 June 2020

25

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9 June 2020

16

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9 June 2020

3416-3431

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9 June 2020

Rab GTPases, intracellular traffic and disease.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Clinical utility gene card for: choroideremia.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Choroideremia: new findings from ocular pathology and review of recent literature

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Neomycin-induced hair cell death and rapid regeneration in the lateral line of zebrafish (Danio rerio).

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Formation of reactive oxygen species following bioactivation of gentamicin

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

A practical diagnostic test for choroideremia

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

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://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Ataluren treatment of patients with nonsense mutation dystrophinopathy

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Proximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Rescue of nonsense mutations by amlexanox in human cells

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Gene expression regulation by upstream open reading frames and human disease

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Upstream open reading frames as regulators of mRNA translation

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Autoregulation of the nonsense-mediated mRNA decay pathway in human cells

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Analysis of human upstream open reading frames and impact on gene expression

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Plant upstream ORFs can trigger nonsense-mediated mRNA decay in a size-dependent manner.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Suppression of premature termination codons as a therapeutic approach.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

The functional effect of pathogenic mutations in Rab escort protein 1.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Functions of plasmalogen lipids in health and disease

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Lipid biomarkers of lens aging

1 reference

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21 January 2018

Stages of embryonic development of the zebrafish

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Embedding, serial sectioning and staining of zebrafish embryos using JB-4 resin

1 reference

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21 January 2018

The zebrafish embryo as a tool for screening and characterizing pleurocidin host-defense peptides as anti-cancer agents.

1 reference

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21 January 2018

Ototoxin-induced cellular damage in neuromasts disrupts lateral line function in larval zebrafish.

1 reference

https://api.crossref.org/works/10.1093/HMG/DDW184

21 January 2018

Evaluation of zebrafish kidney function using a fluorescent clearance assay

1 reference

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21 January 2018

Synthesis of a fluorescent analogue of geranylgeranyl pyrophosphate and its use in a high-throughput fluorometric assay for Rab geranylgeranyltransferase

1 reference

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21 January 2018

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10.1093/HMG/DDW184

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329764 AND SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27329764 AND SRC:MED&resulttype=core&format=json

9 June 2020

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