Phenotyping of Rare <i>CFTR</i> Mutations Reveals Distinct Trafficking and Functional Defects

Phenotyping of Rare <i>CFTR</i> Mutations Reveals Distinct Trafficking and Functional Defects

<i>Background.</i> The most common <i>CFTR</i> mutation, F508del, presents with multiple cellular defects. However, the possible multiple defects caused by many rarer <i>CFTR</i> mutations are not well studied. We investigated four rare <i>CFTR</i> mut...

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Bibliographic Details
Main Authors: Marjolein Ensinck, Liesbeth De Keersmaecker, Lise Heylen, Anabela S. Ramalho, Rik Gijsbers, Ricard Farré, Kris De Boeck, Frauke Christ, Zeger Debyser, Marianne S. Carlon
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:Cells
Subjects:
rare <i>cftr</i> mutations
cftr maturation
cftr function
cftr trafficking
cftr modulators
Online Access:https://www.mdpi.com/2073-4409/9/3/754

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https://www.mdpi.com/2073-4409/9/3/754

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