Article
Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter.
Molecular endocrinology (Baltimore, Md.) - 1 Feb 2008
Kim Paul S, Lee Jaemin, Jongsamak Piyanuch, Menon Shekar, Li Bailing, Hossain Shaikh A, Bae Jin-Ho, Panijpan Bhinyo, Arvan Peter
Abstract excerpt
It has been suggested that a thyroglobulin (Tg)-R19K missense mutation may be a newly identified cause of human congenital goiter, which is surprising for this seemingly conservative substitution. Here, we have examined the intracellular fate of recombinant mutant Tg expressed in COS-7 cells. Incorporation of the R19K mutation largely blocked Tg secretion, and this mutant was approximately 90% degraded...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.