NEMO/IKKγ:: Linking NF-κB to human disease

被引：60

作者：

Courtois, G ^{[1
]}

Smahi, A

Israël, A

机构：

[1] Inst Pasteur, CNRS, URA 1773, Unite Biol Mol Express Genique, Paris, France

[2] Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, Paris, France

来源：

TRENDS IN MOLECULAR MEDICINE | 2001年 / 7卷 / 10期

关键词：

D O I：

10.1016/S1471-4914(01)02154-2

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Until recently, no genetic disease caused by NF-kappaB dysfunction was known. This changed with the identification of the X-linked gene encoding a molecule of the NF-kappaB signaling pathway, NEMO/IKK gamma Two distinct X-linked human diseases, incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia associated with immunodeficiency (EDA-ID), have been linked to NEMO/IKK gamma dysfunction, providing a unique view of the role that NF-kappaB plays in human development, skin homeostasis and innate and acquired immunity.

引用

页码：427 / 430

页数：4

共 40 条

[1] Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ) [J].

Aradhya, S ;

Courtois, G ;

Rajkovic, A ;

Lewis, RA ;

Levy, M ;

Israël, A ;

Nelson, DL .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :765-771

[2] Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia [J].

Chen, YW ;

Molloy, SS ;

Thomas, L ;

Gambee, J ;

Bächinger, HP ;

Ferguson, B ;

Zonana, J ;

Thomas, G ;

Morris, NP .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (13) :7218-7223

[3] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling [J].

Döffinger, R ;

Smahi, A ;

Bessia, C ;

Geissmann, F ;

Feinberg, J ;

Durandy, A ;

Bodemer, C ;

Kenwrick, S ;

Dupuis-Girod, S ;

Blanche, S ;

Wood, P ;

Rabia, SH ;

Headon, DJ ;

Overbeek, PA ;

Le Deist, F ;

Holland, SM ;

Belani, K ;

Kumararatne, DS ;

Fischer, A ;

Shapiro, R ;

Conley, ME ;

Reimund, E ;

Kalhoff, H ;

Abinun, M ;

Munnich, A ;

Israël, A ;

Courtois, G ;

Casanova, JL .

NATURE GENETICS, 2001, 27 (03) :277-285

[4] Absence of tumor necrosis factor rescues RelA-deficient mice from embryonic lethality [J].

Doi, TS ;

Marino, MW ;

Takahashi, T ;

Yoshida, T ;

Sakakura, T ;

Old, LJ ;

Obata, Y .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (06) :2994-2999

[5] Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein [J].

Elomaa, O ;

Pulkkinen, K ;

Hannelius, U ;

Mikkola, M ;

Saarialho-Kere, U ;

Kere, J .

HUMAN MOLECULAR GENETICS, 2001, 10 (09) :953-962

[6] Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells [J].

Ezer, S ;

Bayés, M ;

Elomaa, O ;

Schlessinger, D ;

Kere, J .

HUMAN MOLECULAR GENETICS, 1999, 8 (11) :2079-2086

[7] Requirement for NF-κB in osteoclast and B-cell development [J].

Franzoso, G ;

Carlson, L ;

Xing, LP ;

Poljak, L ;

Shores, EW ;

Brown, KD ;

Leonardi, A ;

Tran, T ;

Boyce, BF ;

Siebenlist, U .

GENES & DEVELOPMENT, 1997, 11 (24) :3482-3496

[8] Genetic approaches in mice to understand Rel/NF-κB and IκB function:: transgenics and knockouts [J].

Gerondakis, S ;

Grossmann, M ;

Nakamura, Y ;

Pohl, T ;

Grumont, R .

ONCOGENE, 1999, 18 (49) :6888-6895

[9] Involvement of a novel Tnf receptor homologue in hair follicle induction [J].

Headon, DJ ;

Overbeek, PA .

NATURE GENETICS, 1999, 22 (04) :370-374

[10] Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand [J].

Hsu, HL ;

Lacey, DL ;

Dunstan, CR ;

Solovyev, I ;

Colombero, A ;

Timms, E ;

Tan, HL ;

Elliott, G ;

Kelley, MJ ;

Sarosi, I ;

Wang, L ;

Xia, XZ ;

Elliott, R ;

Chiu, L ;

Black, T ;

Scully, S ;

Capparelli, C ;

Morony, S ;

Shimamoto, G ;

Bass, MB ;

Boyle, WJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (07) :3540-3545

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