ELP1 Antibody, FITC conjugated

1. overexpression of miR-203a-3p leads to a decrease of NOVA1, counter-balanced by an increase of IKAP, supporting a potential interaction between NOVA1 and IKAP. PMID: 27483351
2. IKAP might be a vesicular like protein that might be involved in neuronal transport in hESC derived PNS neurons PMID: 26437462
3. The formation of the Elp1 dimer contributes to its stability in vitro and in vivo and is required for the assembly of human Elongator complexes. PMID: 26261306
4. IKBKAP mRNA levels decreased during a familial dysautonomia crisis and returned to baseline after recovery. The cause-and-effect relationship is unclear. PMID: 24268683
5. Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model for Familial dysautonomia. PMID: 23515154
6. Digoxin-mediated repression of SRSF3 expression plays a role in the digoxin-mediated inclusion of exon 20 in the IKBKAP transcript generated from the familial dysautonomia mutant allele. PMID: 23711097
7. Combined treatment with epigallocatechin gallate and genistein synergistically upregulates wild-type IKBKAP-encoded RNA and protein levels in familial dysautonomia-derived cells. PMID: 22495984
8. IKAP plays pleiotropic roles in both the peripheral and central nervous systems PMID: 22384137
9. IKAP/hELP1 deficiency has an effect on gene expression in differentiating neuroblastoma cells, and possibly on familial dysautonomia PMID: 21559466
10. IKK complex-associated protein deficiency upregulates the microtubule destabilizing protein SCG10 and, in parallel, disorganizes the cytoskeleton PMID: 21273291
11. Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells PMID: 21209961
12. IKAP regulates contactin levels for appropriate cell-cell adhesion that could modulate neuronal growth of neurons during development PMID: 20671422
13. IKAP is critical for the development of afferent baroreflex pathways and has therapeutic implications in the management of these patients. PMID: 21098405
14. IKBKAP is a candidate gene for Hirschsprung's disease and was mapped to chromosome 9q31 locus. PMID: 20361209
15. novel role for the I kappa B kinase complex-associated protein (IKAP) in the regulation of activation of the mammalian stress response via the c-Jun N-terminal kinase (JNK)-signaling pathway PMID: 12058026
16. Genetics of familial dysautonomia; tissue-specific expression of a splicing mutation (REVIEW) PMID: 12102458
17. Tissue-specific reduction in splicing efficiency of this protein is due to the major mutation associated with familial dysautonomia. PMID: 12577200
18. The study results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population. PMID: 12774215
19. whereas IKBKAP (Elongator) is recruited to both target and nontarget genes, only target genes display histone H3 hypoacetylation and progressively lower RNAPII density through the coding region in familial dysautonomia cells PMID: 16713582
20. Neurodevelopmental disease familial dysautonomia (FD)caused by a single-base change in the 5' splice site (5'ss) of intron 20 in the IKBKAP gene (c.2204+6T>C). PMID: 16964593
21. investigated the nature of the FD splicing defect and the mechanism by which kinetin improves exon inclusion PMID: 17206408
22. IKAP/hELP1 may play a role in oligodendrocyte differentiation and/or myelin formation. PMID: 17591626
23. description of a humanized IKBKAP transgenic mouse that models a tissue-specific human splicing defect PMID: 17644305
24. IKBKAP may have a role in familial dysautonomia PMID: 18091349
25. Evidence for the role of the cytosolic interactions of IKAP in cell adhesion and migration, and support the notion that cell-motility deficiencies could contribute to familial dysautonomia. PMID: 18303054
26. IKAP is crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human. PMID: 19015235

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HGNC: 5959

OMIM: 223900

KEGG: hsa:8518

STRING: 9606.ENSP00000363779

UniGene: Hs.494738