| Name | IKBKAP |
|---|---|
| Synonyms | DYS; ELP1; FD; IKAP; IKBKAP; IKI 3; IKI3; IKK complex associated protein… |
| Name | kinetin |
|---|---|
| CAS |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 14709595 | Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF: Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. . Hum Mol Genet. 2004 Feb 15;13(4):429-36. Epub 2004 Jan 6. Further, kinetin should be explored as a treatment for increasing the level of normal IKAP in FD, and for other splicing disorders that may share a similar mechanism. |
45(0,1,3,5) | Details |
| 19033881 | Gold-von Simson G, Goldberg JD, Rolnitzky LM, Mull J, Leyne M, Voustianiouk A, Slaugenhaupt SA, Axelrod FB: Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res. 2009 Mar;65(3):341-6. Kinetin increases IKBKAP mRNA and protein expression in FD cell lines. |
32(0,0,5,7) | Details |
| 17206408 | Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA: Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med. 2007 Feb;85(2):149-61. Epub 2007 Jan 6. In this study, we demonstrate that treatment of FD lymphoblast cell lines with kinetin increases IKBKAP mRNA and IKAP protein to normal levels. |
13(0,0,2,3) | Details |
| 19693009 | Lee G, Papapetrou EP, Kim H, Chambers SM, Tomishima MJ, Fasano CA, Ganat YM, Menon J, Shimizu F, Viale A, Tabar V, Sadelain M, Studer L: Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature. 2009 Sep 17;461(7262):402-6. Epub 2009 Aug 19. Familial dysautonomia (FD) is a rare but fatal peripheral neuropathy, caused by a point mutation in the IKBKAP gene involved in transcriptional elongation. |
3(0,0,0,3) | Details |