Drug development progress in duchenne muscular dystrophy

J Deng, J Zhang, K Shi, Z Liu - Frontiers in Pharmacology, 2022 - frontiersin.org
Duchenne muscular dystrophy (DMD) is a severe, progressive, and incurable X-linked
disorder caused by mutations in the dystrophin gene. Patients with DMD have an absence of …

Therapeutics based on stop codon readthrough

KM Keeling, X Xue, G Gunn… - Annual review of …, 2014 - annualreviews.org
Nonsense suppression therapy encompasses approaches aimed at suppressing translation
termination at in-frame premature termination codons (PTCs, also known as nonsense …

The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

CL Bladen, D Salgado, S Monges… - Human …, 2015 - Wiley Online Library
Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne
muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research …

PTC124 targets genetic disorders caused by nonsense mutations

EM Welch, ER Barton, J Zhuo, Y Tomizawa, WJ Friesen… - Nature, 2007 - nature.com
Nonsense mutations promote premature translational termination and cause anywhere from
5–70% of the individual cases of most inherited diseases. Studies on nonsense-mediated …

Translational readthrough potential of natural termination codons in eucaryotes–The impact of RNA sequence

M Dabrowski, Z Bukowy-Bieryllo, E Zietkiewicz - RNA biology, 2015 - Taylor & Francis
Termination of protein synthesis is not 100% efficient. A number of natural mechanisms that
suppress translation termination exist. One of them is STOP codon readthrough, the process …

Readthrough compounds for nonsense mutations: bridging the translational gap

S Spelier, EPM van Doorn, CK van der Ent… - Trends in molecular …, 2023 - cell.com
Approximately 10% of all pathological mutations are nonsense mutations that are
responsible for several severe genetic diseases for which no treatment regimens are …

Evidence of efficient stop codon readthrough in four mammalian genes

G Loughran, MY Chou, IP Ivanov, I Jungreis… - Nucleic acids …, 2014 - academic.oup.com
Stop codon readthrough is used extensively by viruses to expand their gene expression.
Until recent discoveries in Drosophila, only a very limited number of readthrough cases in …

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

S Tuffery‐Giraud, C Béroud, F Leturcq… - Human …, 2009 - Wiley Online Library
UMD–DMD France is a knowledgebase developed through a multicenter academic effort to
provide an up‐to‐date resource of curated information covering all identified mutations in …

Exploiting non-canonical translation to identify new targets for T cell-based cancer immunotherapy

CM Laumont, C Perreault - Cellular and molecular life sciences, 2018 - Springer
Cryptic MHC I-associated peptides (MAPs) are produced via two mechanisms: translation of
protein-coding genes in non-canonical reading frames and translation of allegedly non …

Gentamicin‐induced readthrough of stop codons in Duchenne muscular dystrophy

V Malik, LR Rodino‐Klapac, L Viollet, C Wall… - Annals of …, 2010 - Wiley Online Library
Objective The objective of this study was to establish the feasibility of long‐term gentamicin
dosing to achieve stop codon readthrough and produce full‐length dystrophin. Mutation …