Based on the results from our previous Phase 3 study, we believe that Translarna has the potential to meaningfully improve lung function and decrease pulmonary exacerbations in nonsense mutation
cystic fibrosis patients by targeting the underlying cause of the disease.
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations
11) Unlike mutations in other tumor suppressor genes, which are most often characterized by nonsense mutations
that result in a truncated or null protein, most TP53 mutations are missense mutations that result in amino acid substitutions.
A homozygous nonsense mutation
(428G [right arrow] A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections.
Vasconcelos O, Sivakumar K, Dalakas MC, et al: Nonsense mutation
in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
A nonsense mutation
was found in T15 that caused the patient (cm2460) to have TSC2/autism characteristics.
and Genzyme Corporation (Nasdaq: GENZ) today announced preliminary results from the Phase 2b clinical trial of ataluren, an investigational new drug, in patients with nonsense mutation
Duchenne/Becker Muscular Dystrophy (nmDBMD).
Translarna received marketing authorization from the European Medicines Agency (EMA) in August 2014 for the treatment of nonsense mutation
Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged 5 and over, representing the first-ever treatment approved for the underlying cause of the disease.
NASDAQ: PTCT) today announced that the European Commission has granted conditional marketing authorization for Translarna(TM) (ataluren), in the European Union (EU) for the treatment of nonsense mutation
Duchenne muscular dystrophy (nmDMD) in ambulatory patients aged five years and older.
The N209X nonsense mutation
causes premature termination of translation, and results in a truncated 140-amino acid peptide instead of the normal protein.
Mutational analysis of the patient's tumor showed 2 RB1 mutant alleles: a nonsense mutation
A previously undescribed nonsense mutation
of the HFE gene.