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The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells

Cystic Fibrosis (CF) is present due to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, the most frequent variant being p.phe508del. The CFTR protein is a chloride (Cl-) channel which is defective and almost absent of cell membranes when the p.Phe508del mutation is p...

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Principais autores: Raphaël Santinelli, Nathalie Benz, Julie Guellec, Fabien Quinquis, Ervin Kocas, Johan Thomas, Tristan Montier, Chandran Ka, Emilie Luczka-Majérus, Edouard Sage, Claude Férec, Christelle Coraux, Pascal Trouvé
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2024-01-01
Serier:Cells
Fag:
Cystic Fibrosis
p.Phe508del-CFTR
MBTP1
ATF6
Online adgang:https://www.mdpi.com/2073-4409/13/2/185
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