Article

Robust W1282X-CFTR rescue by a small molecule GSPT1 degrader

2021-09-30

Abstract excerpt

With the approval of elexacaftor/tezacaftor/ivacaftor (trade name Trikafta), the vast majority of people with cystic fibrosis (CF) are eligible for CF transmembrane conductance regulator (CFTR) modulator therapy. Remaining individuals have premature termination codons or rare CFTR variants with limited treatment options. Although clinical modulator response can be reliably predicted using primary airway epithelia...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 50a8ff33-b267-5a84-9aae-781decd1888d
DOI: 10.1101/2021.09.28.462149

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Robust W1282X-CFTR rescue by a small molecule GSPT1 degraderDOI 10.1101/2021.09.28.462149Read

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough.Semantic proximity Read

Cystic fibrosis airway inflammation enables elexacaftor/tezacaftor/ivacaftor-mediated rescue of N1303KCFTRmutationSemantic proximity Read

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 actionSemantic proximity Read

Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.Semantic proximity Read

Beyond Kaftrio : mechanistic insights to maximize N1303K-CFTR rescueSemantic proximity Read

Cystic fibrosis cell models for high-throughput analysis and drug screening.Semantic proximity Read

Orkambi® and amplifier co‐therapy improves function from a rare CFTR mutation in gene‐edited cells and patient tissueSemantic proximity Read

A molecular atlas of proximal airway identifies subsets of known airway cell types revealing details of the unique molecular pathogenesis of Cystic FibrosisSemantic proximity Read

Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.Semantic proximity Read

A functional comparison of readthrough agent ELX-02 across a wide range of nonsense CFTR variantsSemantic proximity Read

Response to Elexacaftor/Tezacaftor/Ivacaftor in people with cystic fibrosis with the N1303K mutation: Case report and review of the literatureSemantic proximity Read

A new platform for high-throughput therapy testing on iPSC-derived, immature airway from Cystic Fibrosis PatientsSemantic proximity Read