Human TBK1: A Gatekeeper of Neuroinflammation

被引:155
作者
Ahmad, Liyana [1 ]
Zhang, Shen-Ying [2 ,3 ,4 ]
Casanova, Jean-Laurent [2 ,3 ,4 ,5 ,6 ]
Sancho-Shimizu, Vanessa [1 ,7 ]
机构
[1] Univ London Imperial Coll Sci Technol & Med, Div Med, Dept Virol, Norfolk Pl, London WW 1PG, England
[2] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, 1230 York Ave, New York, NY 10021 USA
[3] INSERM, Lab Human Genet Infect Dis, U1163, Paris, France
[4] Univ Paris 05, Imagine Inst, Paris, France
[5] Howard Hughes Med Inst, New York, NY USA
[6] Necker Hosp Sick Children, Pediat Hematol & Immunol Unit, Paris, France
[7] Univ London Imperial Coll Sci Technol & Med, Div Med, Norfolk Pl, London W2 1PG, England
关键词
AMYOTROPHIC-LATERAL-SCLEROSIS; HERPES-SIMPLEX ENCEPHALITIS; OPEN-ANGLE GLAUCOMA; NF-KAPPA-B; NORMAL-TENSION GLAUCOMA; INNATE IMMUNE-RESPONSE; FRONTOTEMPORAL LOBAR DEGENERATION; BECLIN-1 AUTOPHAGY PROTEIN; TANK-BINDING KINASE-1; MOTOR-NEURON DISEASE;
D O I
10.1016/j.molmed.2016.04.006
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 importance of TANK binding kinase-1 (TBK1), a multimeric kinase that modulates inflammation and autophagy, in human health has been highlighted for the first time by the recent discoveries of mutations in TBK1 that underlie amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), normal tension glaucoma (NTG) or childhood herpes simplex encephalitis (HSE). Gain-of-function of TBK1 are associated with NTG, whereas loss-of-function mutations result in ALS/FTD or in HSE. In light of these new findings, we review the role of TBK1 in these seemingly unrelated, yet allelic diseases, and discuss the role of TBK1 in neuroinflammatory diseases. This discovery has the potential to significantly increase our understanding of the molecular basis of these poorly understood diseases.
引用
收藏
页码:511 / 527
页数:17
相关论文
共 115 条
[1]   Age-Dependent Mendelian Predisposition to Herpes Simplex Virus Type 1 Encephalitis in Childhood [J].
Abel, Laurent ;
Plancoulaine, Sabine ;
Jouanguy, Emmanuelle ;
Zhang, Shen-Ying ;
Mahfoufi, Nora ;
Nicolas, Nathalie ;
Sancho-Shimizu, Vanessa ;
Alcais, Alexandre ;
Guo, Yiqi ;
Cardon, Annabelle ;
Boucherit, Soraya ;
Obach, Dorothee ;
Clozel, Thomas ;
Lorenzo, Lazaro ;
Amsallem, Daniel ;
Berquin, Patrick ;
Blanc, Thierry ;
Bost-Bru, Cecile ;
Chabrier, Stephane ;
Chabrol, Brigitte ;
Cheuret, Emmanuel ;
Dulac, Olivier ;
Evrard, Philippe ;
Heron, Benedicte ;
Lazaro, Leila ;
Mancini, Josette ;
Pedespan, Jean-Michel ;
Rivier, Francois ;
Vallee, Louis ;
Lebon, Pierre ;
Rozenberg, Flore ;
Casanova, Jean-Laurent ;
Tardieu, Marc .
JOURNAL OF PEDIATRICS, 2010, 157 (04) :623-U145
[2]   Recognition of double-stranded RNA and activation of NF-κB by Toll-like receptor 3 [J].
Alexopoulou, L ;
Holt, AC ;
Medzhitov, R ;
Flavell, RA .
NATURE, 2001, 413 (6857) :732-738
[3]   Functional IRF3 deficiency in a patient with herpes simplex encephalitis [J].
Andersen, Line Lykke ;
Mork, Nanna ;
Reinert, Line S. ;
Kofod-Olsen, Emil ;
Narita, Ryo ;
Jorgensen, Sofie E. ;
Skipper, Kristian A. ;
Hning, Klara ;
Gad, Hans Henrik ;
Ostergaard, Lars ;
Orntoft, Torben F. ;
Hornung, Veit ;
Paludan, Soren R. ;
Mikkelsen, Jacob Giehm ;
Fujita, Takashi ;
Christiansen, Mette ;
Hartmann, Rune ;
Mogensen, Trine H. .
JOURNAL OF EXPERIMENTAL MEDICINE, 2015, 212 (09) :1371-1379
[4]  
[Anonymous], AN PROT COD GEN VAR
[5]  
[Anonymous], NEUROBIOL AGING
[6]   Alpha/beta interferons potentiate virus-induced apoptosis through activation of the FADD/caspase-8 death signaling pathway [J].
Balachandran, S ;
Roberts, PC ;
Kipperman, T ;
Bhalla, KN ;
Compans, RW ;
Archer, DR ;
Barber, GN .
JOURNAL OF VIROLOGY, 2000, 74 (03) :1513-1523
[7]   Exome sequencing as a tool for Mendelian disease gene discovery [J].
Bamshad, Michael J. ;
Ng, Sarah B. ;
Bigham, Abigail W. ;
Tabor, Holly K. ;
Emond, Mary J. ;
Nickerson, Deborah A. ;
Shendure, Jay .
NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755
[8]   Oxidative stress in ALS: A mechanism of neurodegeneration and a therapeutic target [J].
Barber, Sian C. ;
Mead, Richard J. ;
Shaw, Pamela J. .
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2006, 1762 (11-12) :1051-1067
[9]   Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes [J].
Boisson-Dupuis, Stephanie ;
Kong, Xiao-Fei ;
Okada, Satoshi ;
Cypowyj, Sophie ;
Puel, Anne ;
Abel, Laurent ;
Casanova, Jean-Laurent .
CURRENT OPINION IN IMMUNOLOGY, 2012, 24 (04) :364-378
[10]   Deficiency of T2K leads to apoptotic liver degeneration and impaired NF-κB-dependent gene transcription [J].
Bonnard, M ;
Mirtsos, C ;
Suzuki, S ;
Graham, K ;
Huang, JN ;
Ng, M ;
Itié, A ;
Wakeham, A ;
Shahinian, A ;
Henzel, WJ ;
Elia, AJ ;
Shillinglaw, W ;
Mak, TW ;
Cao, ZD ;
Yeh, WC .
EMBO JOURNAL, 2000, 19 (18) :4976-4985