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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2013
Soggetti:
Biological Sciences
Accesso online: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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