Ellen Welch

PTC124 targets genetic disorders caused by nonsense mutations

Ellen Welch, Elisabeth R. Barton, Jin Zhuo et al. · Nature · 2007 · 1.1K citations

Mendelian Disorder, Genetic Disorder, Genetics +4

<i>SMN2</i> splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

Nikolai A. Naryshkin, Marla Weetall, Amal Dakka et al. · Science · 2014 · 517 citations

Genetics, Molecular Biology, Therapeutics +21

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

Eitan Kerem, Michael W. Konstan, K. De Boeck et al. · The Lancet Respiratory Medicine · 2014 · 333 citations · Full text

Allergy, Placebo-controlled Phase 3, Clinical Trials +3

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

Ming Du, Xiaoli Liu, Ellen Welch et al. · Proceedings of the National Academy of Sciences · 2008 · 248 citations · Full text

Safety, Tolerability, and Pharmacokinetics of PTC124, a Nonaminoglycoside Nonsense Mutation Suppressor, Following Single‐ and Multiple‐Dose Administration to Healthy Male and Female Adult Volunteers

Samit Hirawat, Ellen Welch, Gary Elfring et al. · The Journal of Clinical Pharmacology · 2007 · 238 citations · Full text