The DOI matches its Crossref record; 86 of the 86 references it cites were found in a registry or an index.
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations
Open accessAbstract
More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes. Most of these mutations lead to compromised anion conductance at the apical plasma membrane of secretory epithelia and cause cystic fibrosis (CF) with variable disease severity. Based on the molecular phenotypic complexity of CFTR mutants and their susceptibility to pharmacotherapy, it has been recognized that mutations may impose combinatorial defects in CFTR channel biology. This notion led to the conclusion that the combination of pharmacotherapies addressing single defects (e.g., transcription, translation, folding, and/or gating) may show improved clinical benefit over available low-efficacy monotherapies. Indeed, recent phase 3 clinical trials combining ivacaftor (a gating potentiator) and lumacaftor (a folding corrector) have proven efficacious in CF patients harboring the most common mutation (deletion of residue F508, ΔF508, or Phe508del). This drug combination was recently approved by the U.S. Food and Drug Administration for patients homozygous for ΔF508. Emerging studies of the structural, cell biological, and functional defects caused by rare mutations provide a new framework that reveals a mixture of deficiencies in different CFTR alleles. Establishment of a set of combinatorial categories of the previously defined basic defects in CF alleles will aid the design of even more efficacious therapeutic interventions for CF patients.
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Cites
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Cited by
Shteinberg, M., Haq, I. J., Polineni, D., & Davies, J. C. (2021) · The Lancet · doi:10.1016/s0140-6736(20)32542-3 · Cited by 682
Veit, G., Roldan, A., Hancock, M. A., Da Fonte, D. F., Xu, H., Hussein, M., Frenkiel, S., Matouk, E., Velkov, T., & Lukacs, G. L. (2020) · JCI Insight · doi:10.1172/jci.insight.139983 · Cited by 250
Self-citationIns and outs of AlphaFold2 transmembrane protein structure predictions
Hegedűs, T., Geisler, M., Lukács, G. L., & Farkas, B. (2022) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-04112-1 · Cited by 127
Self-citationStructure-guided combination therapy to potently improve the function of mutant CFTRs
Veit, G., Xu, H., Dreano, E., Avramescu, R. G., Bagdany, M., Beitel, L. K., Roldan, A., Hancock, M. A., Lay, C., Li, W., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0200-x · Cited by 134
Self-citationMesenchymal stem cells in fibrotic diseases—the two sides of the same coin
Qin, L., Liu, N., Bao, C.-L.-M., Yang, D.-Z., Ma, G.-X., Yi, W.-H., Xiao, G.-Z., & Cao, H.-L. (2023) · Acta Pharmacologica Sinica · doi:10.1038/s41401-022-00952-0 · Cited by 114
Metadata
- Authors
- Veit, G., Avramescu, R. G., Chiang, A. N., Houck, S. A., Cai, Z., Peters, K. W., Hong, J. S., Pollard, H. B., Guggino, W. B., Balch, W. E., Skach, W. R., Cutting, G. R., Frizzell, R. A., Sheppard, D. N., Cyr, D. M., Sorscher, E. J., Brodsky, J. L., & Lukacs, G. L.
- Venue
- Molecular Biology of the Cell
- Published
- 2016-02
- Volume
- 27
- Issue
- 3
- Pages
- 424-433
- ISSN
- 1059-1524 (ISSN-L)
- 1939-4586
- OpenAlex
- W2337762305
- Cited by
- 580
- References
- 86
- FWCI
- 41.84
- Type
- journal article
- Language
- en
- Open access
- green
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- Veit, G., Avramescu, R. G., Chiang, A. N., Houck, S. A., Cai, Z., Peters, K. W., Hong, J. S., Pollard, H. B., Guggino, W. B., Balch, W. E., Skach, W. R., Cutting, G. R., Frizzell, R. A., Sheppard, D. N., Cyr, D. M., Sorscher, E. J., Brodsky, J. L., & Lukacs, G. L. (2016). From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations. Molecular Biology of the Cell. https://doi.org/10.1091/mbc.e14-04-0935
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