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
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
收藏
页码:427 / 430
页数:4
相关论文
共 40 条
  • [21] Severe liver degeneration in mice lacking the IκB kinase 2 gene
    Li, QT
    Van Antwerp, D
    Mercurio, F
    Lee, KF
    Verma, IM
    [J]. SCIENCE, 1999, 284 (5412) : 321 - 325
  • [22] Female mice heterozygous for IKKγ/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
    Makris, C
    Godfrey, VL
    Krähn-Senftleben, G
    Takahashi, T
    Roberts, JL
    Schwarz, T
    Feng, LL
    Johnson, RS
    Karin, M
    [J]. MOLECULAR CELL, 2000, 5 (06) : 969 - 979
  • [23] Mansour S, 2001, AM J MED GENET, V99, P172, DOI 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1155>3.0.CO
  • [24] 2-Y
  • [25] Mercurio F, 1999, MOL CELL BIOL, V19, P1526
  • [26] Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion
    Mikkola, ML
    Pispa, J
    Pekkanen, M
    Paulin, L
    Nieminen, P
    Kere, J
    Thesleff, I
    [J]. MECHANISMS OF DEVELOPMENT, 1999, 88 (02) : 133 - 146
  • [27] Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
    Monreal, AW
    Ferguson, BM
    Headon, DJ
    Street, SL
    Overbeek, PA
    Zonana, J
    [J]. NATURE GENETICS, 1999, 22 (04) : 366 - 369
  • [28] The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone
    Montonen, O
    Ezer, S
    Saarialho-Kere, UK
    Herva, R
    Karjalainen-Lindsberg, ML
    Kaitila, I
    Schlessinger, D
    Srivastava, AK
    Thesleff, I
    Kere, J
    [J]. JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 1998, 46 (03) : 281 - 289
  • [29] ECTODERMAL DYSPLASIAS - A CLINICAL CLASSIFICATION AND A CAUSAL REVIEW
    PINHEIRO, M
    FREIREMAIA, N
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 53 (02): : 153 - 162
  • [30] Roberts JL, 1998, AM J MED GENET, V75, P159, DOI 10.1002/(SICI)1096-8628(19980113)75:2<159::AID-AJMG7>3.0.CO