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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Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2013
Matèries:
Biological Sciences
Accés en línia: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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