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Article

Functional rescue of CFTR in rectal organoids from patients carrying R334W variant by CFTR modulators and PDE4 inhibitor Roflumilast.

Respiratory investigation - 1 May 2024

Latorre Roberta Valeria, Calicchia Martina, Bigliardi Martina, Conti Jessica, Kleinfelder Karina, Melotti Paola, Sorio Claudio

Abstract excerpt

BACKGROUND: Many disease-causing variants in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene remain uncharacterized and untreated. Restoring the function of the impaired CFTR protein is the goal of personalized medicine, particularly in patients carrying rare CFTR variants. In this study, functional defects related to the rare R334W variant were evaluated after treatment with CFTR modulators...

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PMID: 38547757
DOI: 10.1016/j.resinv.2024.03.003

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