Searchable abstracts of presentations at key conferences in endocrinology

ea0064001 | Androgen Insensitivity Syndrome can be due to a dimerization defect in the androgen receptor | BES2019

Androgen Insensitivity Syndrome can be due to a dimerization defect in the androgen receptor

El Kharraz S , Helsen C , Hochepied T , Libert C , Vanderschueren D , Claessens F

Mutations in the androgen receptor (AR) are associated with androgen insensitivity syndrome (AIS). Most AIS mutations affect either hormone, DNA or coactivator binding to the AR, but for some mutations there was no explanation yet. Recently, a crystal structure revealed a possible dimerization interface in the ligand binding domain (LBD) of the AR.1 To test the physiological relevance of this LBD dimerization, we generated a mouse model with a W732R mutation located...

ea0057002 | Physiological relevance of LBD-dimerization of the androgen receptor | BES2018

Physiological relevance of LBD-dimerization of the androgen receptor

El Kharraz S , Helsen C , Hochepied T , Libert C , Houtsmuller A , Van Royen M , Vanderschueren D , Claessens F

Most mutations found in the androgen receptor (AR) are associated with some form of androgen insensitivity syndrome (AIS), and correlate with a loss of either hormone, DNA or coactivator binding. For some mutations in the ligand binding domain (LBD) of the AR, it is unclear what the underlying mechanism of the AIS could be. In the beginning of 2017, a new dimerization interface was uncovered in a crystal structure of the ligand-binding domain (LBD) which provides a possible me...