Defective Protein Folding and Intracellular Retention of Thyroglobulin-R19K Mutant as a Cause of Human Congenital Goiter

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. Incorp...

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Hlavní autoři: Kim, Paul S., Lee, Jaemin, Jongsamak, Piyanuch, Menon, Shekar, Li, Bailing, Hossain, Shaikh A., Bae, Jin-Ho, Panijpan, Bhinyo, Arvan, Peter
Médium: Artigo
Jazyk:Inglês
Vydáno: The Endocrine Society 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2725791/
https://ncbi.nlm.nih.gov/pubmed/17916655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/me.2007-0183
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