Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment

Deletion of phenylalanine at position 508 (F508del) in the CFTR chloride channel is the most frequent mutation in cystic fibrosis (CF) patients. F508del impairs the stability and folding of the CFTR protein, thus resulting in mistrafficking and premature degradation. F508del-CFTR defects can be over...

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Vydáno v:Int J Mol Sci
Hlavní autoři: Capurro, Valeria, Tomati, Valeria, Sondo, Elvira, Renda, Mario, Borrelli, Anna, Pastorino, Cristina, Guidone, Daniela, Venturini, Arianna, Giraudo, Alessandro, Mandrup Bertozzi, Sine, Musante, Ilaria, Bertozzi, Fabio, Bandiera, Tiziano, Zara, Federico, Galietta, Luis J. V., Pedemonte, Nicoletta
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8156943/
https://ncbi.nlm.nih.gov/pubmed/34067708
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22105262
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