The NF-κB signaling pathway in human genetic diseases

被引：55

作者：

Courtois, G ^{[1
]}

机构：

[1] Hop St Louis, INSERM, U697, F-75010 Paris, France

来源：

CELLULAR AND MOLECULAR LIFE SCIENCES | 2005年 / 62卷 / 15期

关键词：

NF-kappa B; NEMO; incontinentia pigmenti; anhidrotic ectodermal dysplasia with immunodeficiency; cylindromatosis; CYLD;

D O I：

10.1007/s00018-005-5031-5

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：

The nuclear factor-kappa B (NF-kappa B) signaling pathway plays a key role in inflammation, immune response, cell growth control and protection against apoptosis. Recently, it has been associated with several distinct genetic diseases that exhibit a large spectrum of dysfunction, such as skin inflammation, perturbed skin appendage development and immunodeficiencies. In this review, a summary of the pathophysiological consequences of impaired NF-kappa B activation in humans is provided with respect to the functions of the molecules which are mutated.

引用

页码：1682 / 1691

页数：10

共 77 条

[1] Anhidrotic ectodermal dysplasia associated with specific antibody deficiency [J].

Abinun, M ;

Spickett, G ;

Appleton, AL ;

Flood, T ;

Cant, AJ .

EUROPEAN JOURNAL OF PEDIATRICS, 1996, 155 (02) :146-147

[2] The trimerization domain of nemo is composed of the interacting C-terminal CC2 and LZ coiled-coil subdomains [J].

Agou, F ;

Traincard, F ;

Vinolo, E ;

Courtois, G ;

Yamaoka, S ;

Israël, A ;

Véron, M .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (27) :27861-27869

[3]

[Anonymous], NAT MED

[4] 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

[5] A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations [J].

Aradhya, S ;

Woffendin, H ;

Jakins, T ;

Bardaro, T ;

Esposito, T ;

Smahi, A ;

Shaw, C ;

Levy, M ;

Munnich, A ;

D'Urso, M ;

Lewis, RA ;

Kenwrick, S ;

Nelson, DL .

HUMAN MOLECULAR GENETICS, 2001, 10 (19) :2171-2179

[6] Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes [J].

Aradhya, S ;

Bardaro, T ;

Galgóczy, P ;

Yamagata, T ;

Esposito, T ;

Patlan, H ;

Ciccodicola, A ;

Munnich, A ;

Kenwrick, S ;

Platzer, M ;

D'Urso, M ;

Nelson, DL .

HUMAN MOLECULAR GENETICS, 2001, 10 (22) :2557-2567

[7] EMBRYONIC LETHALITY AND LIVER DEGENERATION IN MICE LACKING THE RELA COMPONENT OF NF-KAPPA-B [J].

BEG, AA ;

SHA, WC ;

BRONSON, RT ;

GHOSH, S ;

BALTIMORE, D .

NATURE, 1995, 376 (6536) :167-170

[8] Identification of the familial cylindromatosis tumour-suppressor gene [J].

Bignell, GR ;

Warren, W ;

Seal, S ;

Takahashi, M ;

Rapley, E ;

Barfoot, R ;

Green, H ;

Brown, C ;

Biggs, PJ ;

Lakhani, SR ;

Jones, C ;

Hansen, J ;

Blair, E ;

Hofmann, B ;

Siebert, R ;

Turner, G ;

Evans, DG ;

Schrander-Stumpel, C ;

Beemer, FA ;

van den Ouweland, A ;

Halley, D ;

Delpech, B ;

Cleveland, MG ;

Leigh, I ;

Leisti, J ;

Rasmussen, S ;

Wallace, MR ;

Fenske, C ;

Banerjee, P ;

Oiso, N ;

Chaggar, R ;

Merrett, S ;

Leonard, N ;

Huber, M ;

Hohl, D ;

Chapman, P ;

Burn, J ;

Swift, S ;

Smith, A ;

Ashworth, A ;

Stratton, MR .

NATURE GENETICS, 2000, 25 (02) :160-165

[9] Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti - An unusual phenomenon and a fascinating pathologic mechanism [J].

Bodak, N ;

Hadj-Rabia, S ;

Hamel-Teillac, D ;

de Prost, Y ;

Bodemer, C .

ARCHIVES OF DERMATOLOGY, 2003, 139 (02) :201-204

[10] Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-κB [J].

Brummelkamp, TR ;

Nijman, SMB ;

Dirac, AMG ;

Bernards, R .

NATURE, 2003, 424 (6950) :797-801

← 1 2 3 4 5 6 7 8 →