Suppressing 'nonsense' in cystic fibrosis.

Alexandre Hinzpeter, Isabelle Sermet-Gaudelus, David N Sheppard
Author Information
  1. Alexandre Hinzpeter: INSERM U1151, Institut Necker Enfants Malades, Paris, France.
  2. Isabelle Sermet-Gaudelus: INSERM U1151, Institut Necker Enfants Malades, Paris, France.
  3. David N Sheppard: School of Physiology, Pharmacology and Neuroscience, University of Bristol, Bristol, UK. ORCID

Abstract

No abstract text available.

Keywords

References

  1. Carroll TP, Morales MM, Fulmer SB, Allen SS, Flotte TR, Cutting GR & Guggino WB (1995). Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator. J Biol Chem 270, 11941-11946.
  2. 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.
  3. Howard M, Frizzell RA & Bedwell DM (1996). Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2, 467-469.
  4. 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.
  5. 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.
  6. Xue X, Mutyam V, Thakerar A, Mobley J, Bridges RJ, Rowe SM, Keeling KM & Bedwell DM (2017). Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences. Hum Mol Genet 26, 3116-3129.
  7. Yeh JT & Hwang TC (2020). Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR. J Physiol 598, 517-541.

MeSH Term

Aminophenols
Codon, Nonsense
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Humans
Quinolones

Chemicals

Aminophenols
Codon, Nonsense
Quinolones
Cystic Fibrosis Transmembrane Conductance Regulator

Word Cloud

Created with Highcharts 10.0.0cysticfibrosisCFTRSuppressing'nonsense'correctorspotentiatorsprematureterminationcodonsPTCs

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