E3 Ubiquitin-Proteinligase XIAP
Das XIAP-Gen kodiert ein Protein, welches in der Steuerung der Apoptose eine Supressorfunktion einnimmt. Mutationen führen zum x-chromosomal rezessivem lymphoproliferativen Syndrom Typ 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Tang G et al. (2001) Inhibition of JNK activation through NF-kappaB target genes.
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2. |
Nishida N et al. (2015) Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.
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3. |
Dziadzio M et al. (2015) Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.
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4. |
Latour S et al. (2015) XIAP deficiency syndrome in humans.
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5. |
Yang X et al. (2012) Clinical and genetic characteristics of XIAP deficiency in Japan.
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6. |
Worthey EA et al. (2011) Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
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7. |
Jost PJ et al. (2009) XIAP discriminates between type I and type II FAS-induced apoptosis.
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8. |
Kim J et al. (2008) X-linked inhibitor of apoptosis protein is an important regulator of vascular endothelial growth factor-dependent bovine aortic endothelial cell survival.
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9. |
Dohi T et al. (2007) Compartmentalized phosphorylation of IAP by protein kinase A regulates cytoprotection.
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10. |
Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
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11. |
Mufti AR et al. (2006) XIAP Is a copper binding protein deregulated in Wilson's disease and other copper toxicosis disorders.
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12. |
Cummins JM et al. (2004) X-linked inhibitor of apoptosis protein (XIAP) is a nonredundant modulator of tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-mediated apoptosis in human cancer cells.
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13. |
Shiozaki EN et al. (2003) Mechanism of XIAP-mediated inhibition of caspase-9.
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14. |
Sanna MG et al. (2002) ILPIP, a novel anti-apoptotic protein that enhances XIAP-mediated activation of JNK1 and protection against apoptosis.
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15. |
Liston P et al. (1996) Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes.
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16. |
Harlin H et al. (2001) Characterization of XIAP-deficient mice.
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17. |
Riedl SJ et al. (2001) Structural basis for the inhibition of caspase-3 by XIAP.
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18. |
Huang Y et al. (2001) Structural basis of caspase inhibition by XIAP: differential roles of the linker versus the BIR domain.
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19. |
Chai J et al. (2001) Structural basis of caspase-7 inhibition by XIAP.
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20. |
Srinivasula SM et al. (2001) A conserved XIAP-interaction motif in caspase-9 and Smac/DIABLO regulates caspase activity and apoptosis.
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21. |
Wu G et al. () Structural basis of IAP recognition by Smac/DIABLO.
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22. |
Liu Z et al. () Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain.
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23. |
Yang Y et al. (2000) Ubiquitin protein ligase activity of IAPs and their degradation in proteasomes in response to apoptotic stimuli.
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24. |
Deveraux QL et al. (1997) X-linked IAP is a direct inhibitor of cell-death proteases.
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25. |
Farahani R et al. (1997) Genomic organization and primary characterization of miap-3: the murine homologue of human X-linked IAP.
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26. |
Rajcan-Separovic E et al. (1996) Assignment of human inhibitor of apoptosis protein (IAP) genes xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-q23 by fluorescence in situ hybridization.
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27. |
Duckett CS et al. (1996) A conserved family of cellular genes related to the baculovirus iap gene and encoding apoptosis inhibitors.
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28. |
Uren AG et al. (1996) Cloning and expression of apoptosis inhibitory protein homologs that function to inhibit apoptosis and/or bind tumor necrosis factor receptor-associated factors.
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Update: 14. August 2020