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

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

(2015) Yuhua Ye et al.   HUMAN GENETICS

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

(2015) Francisco J.C. Pereira et al.   NUCLEIC ACIDS RESEARCH

Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay

(2015) Sonia Christou-Savina et al.   Jove-Journal of Visualized Experiments

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

(2014) Nele Schwarz et al.   HUMAN MOLECULAR GENETICS

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

(2014) Robert E MacLaren et al.   LANCET

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

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

(2014) Nicolas Cereso et al.   Molecular Therapy-Methods & Clinical Development

Clinical utility gene card for: Choroideremia

(2013) Mariya Moosajee et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment

(2013) Mei Li et al.   FASEB JOURNAL

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

(2013) Cheryl Y. Gregory-Evans et al.   JOURNAL OF CLINICAL INVESTIGATION

Gene Expression Regulation by Upstream Open Reading Frames and Human Disease

(2013) Cristina Barbosa et al.   PLoS Genetics

Lipid Biomarkers of Lens Aging

(2012) Bimal Prasanna Mohanty et al.   APPLIED BIOCHEMISTRY AND BIOTECHNOLOGY

Functions of plasmalogen lipids in health and disease

(2012) Nancy E. Braverman et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Suppression of premature termination codons as a therapeutic approach

(2012) Kim M. Keeling et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Rescue of nonsense mutations by amlexanox in human cells

(2012) Sara Gonzalez-Hilarion et al.   Orphanet Journal of Rare Diseases

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

(2011) M. G. Morash et al.   Disease Models & Mechanisms

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

(2011) Lauren M.J. Buck et al.   HEARING RESEARCH

PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C

(2011) T. Goldmann et al.   HUMAN GENE THERAPY

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

(2011) Gabriella Esposito et al.   HUMAN MUTATION

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

(2011) Chinmoy Sarkar et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) Dan Wang et al.   MOLECULAR GENETICS AND METABOLISM

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

(2011) H. Yepiskoposyan et al.   RNA

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

(2010) Jessica Sullivan-Brown et al.   Nature Protocols

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

(2009) Samuel Bellais et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The functional effect of pathogenic mutations in Rab escort protein 1

(2009) Y.V. Sergeev et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

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

(2009) Tünde Nyikó et al.   PLANT MOLECULAR BIOLOGY

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

(2009) S. E. Calvo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature

(2009) Ian M. MacDonald et al.   SURVEY OF OPHTHALMOLOGY

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

(2008) M. Moosajee et al.   HUMAN MOLECULAR GENETICS

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

(2008) M. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) A. L. Silva et al.   RNA