Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy

Mutations in receptors, ion channels, and enzymes are frequently recognized by the cellular quality control system as misfolded and retained in the endoplasmic reticulum (ER) or otherwise misrouted. Retention results in loss of function at the normal site of biological activity and disease. Pharmaco...

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Detalhes bibliográficos
Main Authors: Janovick, Jo Ann, Stewart, M. David, Jacob, Darla, Martin, L. D., Deng, Jian Min, Stewart, C. Allison, Wang, Ying, Cornea, Anda, Chavali, Lakshmi, Lopez, Suhujey, Mitalipov, Shoukhrat, Kang, Eunju, Lee, Hyo-Sang, Manna, Pulak R., Stocco, Douglas M., Behringer, Richard R., Conn, P. Michael
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3876212/
https://ncbi.nlm.nih.gov/pubmed/24324164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1315194110
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