Article
Slowing ribosome velocity restores folding and function of mutant CFTR.
The Journal of clinical investigation - 2 Dec 2019
Oliver Kathryn E, Rauscher Robert, Mijnders Marjolein, Wang Wei, Wolpert Matthew J, Maya Jessica, Sabusap Carleen M, Kesterson Robert A, Kirk Kevin L, Rab Andras, Braakman Ineke, Hong Jeong S, Hartman John L, Ignatova Zoya, Sorscher Eric J
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR), with approximately 90% of patients harboring at least one copy of the disease-associated variant F508del. We utilized a yeast phenomic system to identify genetic modifiers of F508del-CFTR biogenesis, from which ribosomal protein L12 (RPL12/uL11) emerged as a molecular target. In the present study, we investigated...
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