A mutational approach to dissect the functional role of the putative CFTR “PTM-CODE”

The deletion of phenylalanine at position 508 (F508del) in CFTR is the most frequent mutation causative of Cystic Fibrosis (CF). F508-deletion is responsible for defective folding and processing of CFTR, which fails to traffic to the plasma membrane (PM) and causes the majority of CFTR protein to be retained in the endoplasmic reticulum with premature degradation. CFTR is subjected to different post-translational modifications (PTMs) [1 –4] and the possibility to modulate these PTMs has been suggested as a potential therapeutic strategy for the functional recovery of mutated forms.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Source Type: research