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

B1 Non-refereed article in a scientific journal

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

Authors: Rivero-Müller 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 name in source: EUROPEAN JOURNAL OF ENDOCRINOLOGY

Journal acronym: EUR J ENDOCRINOL

Volume: 172

Issue: 6

First page : K27

Last page: K36

Number of pages: 10

ISSN: 0804-4643

eISSN: 1479-683X

DOI: https://doi.org/10.1530/EJE-14-1095

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.