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

Adolfo Rivero Müller; I Potorac; A Pintiaux; AF Daly; A Thiry; C Rydlewski; M Nisolle; AS Parent; I Huhtaniemi; A Beckers

doi:10.1530/EJE-14-1095

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

Adolfo Rivero Müller, I Potorac, A Pintiaux, AF Daly, A Thiry, C Rydlewski, M Nisolle, AS Parent, I Huhtaniemi, A Beckers

Turku Bioscience Centre

Research output: Contribution to journal › Article › Scientific

17 Citations (Scopus)

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.

Original language	Undefined/Unknown
Pages (from-to)	K27–K36
Number of pages	10
Journal	European Journal of Endocrinology
Volume	172
Issue number	6
DOIs	https://doi.org/10.1530/EJE-14-1095
Publication status	Published - 2015
MoE publication type	B1 Article in a scientific magazine

Access to Document

10.1530/EJE-14-1095

Cite this

Rivero Müller, A., Potorac, I., Pintiaux, A., Daly, AF., Thiry, A., Rydlewski, C., Nisolle, M., Parent, AS., Huhtaniemi, I., & Beckers, A. (2015). A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1. European Journal of Endocrinology, 172(6), K27–K36. https://doi.org/10.1530/EJE-14-1095

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

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.",

author = "{Rivero M{\"u}ller}, Adolfo and I Potorac and A Pintiaux and AF Daly and A Thiry and C Rydlewski and M Nisolle and AS Parent and I Huhtaniemi and A Beckers",

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Rivero Müller, A, Potorac, I, Pintiaux, A, Daly, AF, Thiry, A, Rydlewski, C, Nisolle, M, Parent, AS, Huhtaniemi, I & Beckers, A 2015, 'A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1', European Journal of Endocrinology, vol. 172, no. 6, pp. K27–K36. https://doi.org/10.1530/EJE-14-1095

TY - JOUR

T1 - A novel inactivating mutation of the LH/chorionic gonadotrophin receptor with impaired membrane trafficking leading to Leydig cell hypoplasia type 1

AU - Rivero Müller, Adolfo

AU - Potorac, I

AU - Pintiaux, A

AU - Daly, AF

AU - Thiry, A

AU - Rydlewski, C

AU - Nisolle, M

AU - Parent, AS

AU - Huhtaniemi, I

AU - Beckers, A

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

U2 - 10.1530/EJE-14-1095

DO - 10.1530/EJE-14-1095

M3 - Artikel

SN - 0804-4643

VL - 172

SP - K27–K36

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

IS - 6

ER -