Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

X-chromosomales lymphoproliferatives Syndrom 2
XIAP

Referenzen:

1.

Liston P et al. (1996) Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes.

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2.

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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3.

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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4.

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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5.

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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6.

Deveraux QL et al. (1997) X-linked IAP is a direct inhibitor of cell-death proteases.

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7.

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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8.

Liu Z et al. () Structural basis for binding of Smac/DIABLO to the XIAP BIR3 domain.

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9.

Wu G et al. () Structural basis of IAP recognition by Smac/DIABLO.

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10.

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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11.

Chai J et al. (2001) Structural basis of caspase-7 inhibition by XIAP.

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12.

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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13.

Riedl SJ et al. (2001) Structural basis for the inhibition of caspase-3 by XIAP.

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14.

Harlin H et al. (2001) Characterization of XIAP-deficient mice.

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15.

Tang G et al. (2001) Inhibition of JNK activation through NF-kappaB target genes.

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16.

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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17.

Shiozaki EN et al. (2003) Mechanism of XIAP-mediated inhibition of caspase-9.

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18.

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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19.

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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20.

Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

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21.

Dohi T et al. (2007) Compartmentalized phosphorylation of IAP by protein kinase A regulates cytoprotection.

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22.

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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23.

Jost PJ et al. (2009) XIAP discriminates between type I and type II FAS-induced apoptosis.

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24.

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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25.

Yang X et al. (2012) Clinical and genetic characteristics of XIAP deficiency in Japan.

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26.

Latour S et al. (2015) XIAP deficiency syndrome in humans.

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27.

Dziadzio M et al. (2015) Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

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28.

Nishida N et al. (2015) Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.

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Update: 17. Oktober 2019