Suppressing 'nonsense' in cystic fibrosis
- PMID: 31869855
- DOI: 10.1113/JP279267
Suppressing 'nonsense' in cystic fibrosis
Keywords: CFTR; CFTR correctors and potentiators; cystic fibrosis; premature termination codons (PTCs).
Comment on
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Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR.J Physiol. 2020 Feb;598(3):517-541. doi: 10.1113/JP278418. Epub 2019 Nov 2. J Physiol. 2020. PMID: 31585024 Free PMC article.
References
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- Haggie PM, Phuan PW, Tan JA, Xu H, Avramescu RG, Perdomo D, Zlock L, Nielson DW, Finkbeiner WE, Lukacs GL & Verkman AS (2017). Correctors and potentiators rescue function of the truncated W1282X-cystic fibrosis transmembrane regulator (CFTR) translation product. J Biol Chem 292, 771-785.
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- Howard M, Frizzell RA & Bedwell DM (1996). Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2, 467-469.
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- Laselva O, Eckford PD, Bartlett C, Ouyang H, Gunawardena TN, Gonska T, Moraes TJ, Bear CE (2019). Functional rescue of c.3846G>A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action. J Cyst Fibros (in press; https://doi.org/10.1016/j.jcf.2019.12.001.
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- Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU & Cutting GR (2018). Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis. PLoS Genet 14, e1007723.
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