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

Turun biotiedekeskus

Tutkimustuotos: Lehtiartikkeli › Artikkeli › Tieteellinen

18 Sitaatiot (Scopus)

Abstrakti

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.

Alkuperäiskieli	Ei tiedossa
Sivut	K27–K36
Sivumäärä	10
Julkaisu	European Journal of Endocrinology
Vuosikerta	172
Numero	6
DOI - pysyväislinkit	https://doi.org/10.1530/EJE-14-1095
Tila	Julkaistu - 2015
OKM-julkaisutyyppi	B1 Artikkeli tiedelehdessä

Pääsy asiakirjaan

10.1530/EJE-14-1095

Viittausmuodot

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

@article{b8c3ee4fdaef4dbca97fff092f934e07,

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",

year = "2015",

doi = "10.1530/EJE-14-1095",

language = "Odefinierat/ok{\"a}nt",

volume = "172",

pages = "K27–K36",

journal = "European Journal of Endocrinology",

issn = "0804-4643",

publisher = "European Society of Endocrinology",

number = "6",

}

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, Vuosikerta 172, Nro 6, Sivut 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 -