We also detected one CDKN2A (p16) nonsense mutation
in the NK-SQCC group.
Sequence screening of all the family members showed a nonsense mutation
at nucleotide position c.
The findings were verified in multiple nonsense mutation
Biopharmaceutical company PTC Therapeutics (NasdaqGS:PTCT) reported on Tuesday the initiation of a rolling submission of a New Drug Application (NDA) to the US Food and Drug Administration (FDA) for Translarna for the treatment of nonsense mutation
Duchenne muscular dystrophy (nmDMD).
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.
In general, mRNA containing nonsense mutations
is found in low concentrations.
M2 EQUITYBITES-December 24, 2014-PTC Therapeutics begins rolling submission of Translarna's NDA to the US FDA for treating nonsense mutation
Duchenne muscular dystrophy
Translarna is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation
, such as Duchenne muscular dystrophy.
Mutational analysis of the patient's tumor showed 2 RB1 mutant alleles: a nonsense mutation
Patient 56 harbored a c54C>A transversion originating the nonsense mutation
Ser185X (TGC changes to stop codon TGA), which predicts a truncated protein consisting of only 185 amino acids.
The drugs, evaluated under the Highly Specialised Technology Programme of the National Institute for Health and Care Excellence (NICE), will be made available to patients with very rare conditions including atypical Haemolytic Uraemic Syndrome, mucopolysaccharidosis type IVa and Duchenne muscular dystrophy caused by a nonsense mutation
These results revealed that the young male patient was hemizygous for the nonsense mutation