«Our new data is scientifically important because ataluren restores activity to genes inactivated
by nonsense mutations, and as a result, it has the potential to do so much for a large number of very complex genetic disorders,» Jacobson said.
In Irish Setters, rcd1 is caused
by a nonsense mutation G > A transition at nucleotide position 2420 in PDEB gene.
Not exact matches
«Given this mechanism, ataluren offers the potential for a new therapeutic approach for multiple
nonsense mutation genetic disorders
by targeting the underlying cause of the disease.»
Ataluren and amlexanox, work
by enabling cells to bypass a particular type of DNA gene change known as a
nonsense mutation.
Most of the somatic
mutations were missense
mutations (n = 72), followed
by nonsense (n = 10) and frameshift
mutations (n = 9)(Figure 1B).