nonsense mutation


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nonsense mutation

[′nän‚səns myü‚tā·shən]
(cell and molecular biology)
A mutation that changes a codon that codes for one amino acid into a codon that does not specify any amino acid (a nonsense codon).
References in periodicals archive ?
These data provide new insight on ataluren's effect on protein production and validates that it targets the source of nonsense mutation genetic disorders," said Allan Jacobson, Ph.
We are delighted that AIFA's decision means we can now bring the first therapy approved for nonsense mutation DMD to patients and families in Italy.
This transition originates the nonsense mutation Trp213X (TGG changes to stop codon TGA), which predicts a truncated protein consisting of only 213 amino acids.
chief executive officer of PTC Therapeutics Inc, said, 'This funding will support our continued late-stage clinical development of ataluren in nonsense mutation Duchenne and Becker muscular dystrophy and nonsense mutation cystic fibrosis.
today announced that the company and NHS England have successfully negotiated a Managed Access Agreement (MAA) for Translarna (ataluren) for ambulatory patients aged five years and older with nonsense mutation Duchenne muscular dystrophy (nmDMD).
As part of the restructuring, PTC gets worldwide rights to ataluren, a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation.
However, as Mahadevan and Benson (2) point out, a nonsense mutation at this position could have clinical consequences different from those of the Leiden mutation.
The decrease in 6MWD observed in boys with DBMD is consistent with results from a recently-reported registration-directed Phase IIb clinical trial of the investigational new drug ataluren in nonsense mutation DBMD, which showed that patients treated with placebo experienced an average loss of 43 m in 6MWD over 48 weeks.
Case 3 carried a novel POMC heterozygous nonsense mutation that introduces a stop codon in the [beta]-endorphin peptide (E244X) and the above-described 9-bp insertion (AGC AGC CGC, S-S-G) between codons 93 and 99 in homozygosity.
Several therapeutic approaches aim to restore dystrophin expression in DMD: gene therapy, stem cell therapy, nonsense mutation read-through and redirection of splicing with antisense oligonucleotides (AOs).