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Article

Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

Many genetic diseases are due to defects in protein trafficking where the mutant protein is recognized by the quality control systems, retained in the endoplasmic reticulum (ER), and degraded by the proteasome...

Heidi M Sampson, Hung Lam, Pei-Chun Chen… in Orphanet Journal of Rare Diseases (2013)