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LENA , Mariateresa

Last name: LENA

First name: Mariateresa

2022 (v1)

Publication

Metadata-only

Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background

Tomati, Valeria Costa, Stefano Capurro, Valeria

Background: Cystic fibrosis is caused by mutations impairing expression, trafficking, stability and/or activity of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. The G1244E mutation causes a severe gating defect that it is not completely rescued by ivacaftor but requires the use of a second compound (a...

Uploaded on: February 14, 2024