A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1

B1 Non-refereed journal articles


Internal Authors/Editors


Publication Details

List of Authors: Rivero-Muller A, Potorac I, Pintiaux A, Daly AF, Thiry A, Rydlewski C, Nisolle M, Parent AS, Huhtaniemi I, Beckers A
Publisher: BIOSCIENTIFICA LTD
Publication year: 2015
Journal: European Journal of Endocrinology
Journal acronym: EUR J ENDOCRINOL
Volume number: 172
Issue number: 6
Start page: K27
End page: K36
Number of pages: 10
ISSN: 0804-4643
eISSN: 1479-683X


Abstract

Conclusions: This novel LHCGR mutation leads to complete inactivation of the LHCGR receptor due to trafficking and signalling abnormalities, which improves our understanding of the impact of the affected structural domain on receptor trafficking and function.

Last updated on 2019-17-10 at 01:52