| Tumours from patients with ELP1-associated medulloblastoma subgroup Sonic Hedgehog were characterized by a destabilized Elongator complex, loss of Elongator-dependent tRNA modifications, codon-dependent translational reprogramming | Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM., Free PMC Article | 05/9/2020 |
| A secondary assay that measures ELP1 splicing in FD patient-derived fibroblasts. | Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.
Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G, Minor L, Slaugenhaupt SA. | 04/4/2020 |
| postnatal correction of the underlying ELP1 splicing defect can rescue devastating disease phenotypes in a humanized ELP1 mouse model | ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA., Free PMC Article | 02/8/2020 |
| The authors identified two potentially functional single nucleotide polymorphisms (IKBKAP rs4978754 C > T and TNFRSF1B rs677844 T > C) to be associated with survival of patients with non-small cell lung cancer. | Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial.
Guo Y, Feng Y, Liu H, Luo S, Clarke JW, Moorman PG, Su L, Shen S, Christiani DC, Wei Q., Free PMC Article | 11/9/2019 |
| Data indicate that heterogeneous nuclear ribonucleoprotein A1 (hnRNP A1) is a negative regulator of IKK-complex-associated protein (IKBKAP) exon 20 splicing. | Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.
Bruun GH, Bang JMV, Christensen LL, Brøner S, Petersen USS, Guerra B, Grønning AGB, Doktor TK, Andresen BS., Free PMC Article | 08/31/2019 |
| The founder mutation in the IKBKAP gene affects the development of vestibular afferent pathways, leading to attenuated cVEMPs. | Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.
Gutiérrez JV, Kaufmann H, Palma JA, Mendoza-Santiesteban C, Macefield VG, Norcliffe-Kaufmann L. | 04/13/2019 |
| This splice-switching class of molecules is the first to specifically correct the ELP1 exon 20 splicing defect. Our data provide proof of principle of ExSpeU1s-adeno-associated virus particles as a novel therapeutic strategy for FD. | Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F., Free PMC Article | 03/16/2019 |
| 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. | MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.
Hervé M, Ibrahim EC., Free PMC Article | 12/9/2017 |
| IKAP might be a vesicular like protein that might be involved in neuronal transport in hESC derived PNS neurons | Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation.
Lefler S, Cohen MA, Kantor G, Cheishvili D, Even A, Birger A, Turetsky T, Gil Y, Even-Ram S, Aizenman E, Bashir N, Maayan C, Razin A, Reubinoff BE, Weil M., Free PMC Article | 06/4/2016 |
| 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. | Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Xu H, Lin Z, Li F, Diao W, Dong C, Zhou H, Xie X, Wang Z, Shen Y, Long J., Free PMC Article | 01/2/2016 |
| IKBKAP mRNA levels decreased during a familial dysautonomia crisis and returned to baseline after recovery. The cause-and-effect relationship is unclear. | Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients.
Cheishvili D, Laiba E, Rekhtman D, Claman A, Razin A, Maayan C. | 09/6/2014 |
| Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model for Familial dysautonomia. | Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.
Bochner R, Ziv Y, Zeevi D, Donyo M, Abraham L, Ashery-Padan R, Ast G. | 03/29/2014 |
| 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. | Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.
Liu B, Anderson SL, Qiu J, Rubin BY. | 09/28/2013 |
| Combined treatment with epigallocatechin gallate and genistein synergistically upregulates wild-type IKBKAP-encoded RNA and protein levels in familial dysautonomia-derived cells. | Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells.
Anderson SL, Liu B, Qiu J, Sturm AJ, Schwartz JA, Peters AJ, Sullivan KA, Rubin BY. | 09/15/2012 |
| IKAP plays pleiotropic roles in both the peripheral and central nervous systems | IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration.
Hunnicutt BJ, Chaverra M, George L, Lefcort F., Free PMC Article | 09/1/2012 |
| IKAP/hELP1 deficiency has an effect on gene expression in differentiating neuroblastoma cells, and possibly on familial dysautonomia | Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia.
Cohen-Kupiec R, Pasmanik-Chor M, Oron-Karni V, Weil M., Free PMC Article | 12/3/2011 |
| IKK complex-associated protein deficiency upregulates the microtubule destabilizing protein SCG10 and, in parallel, disorganizes the cytoskeleton | IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.
Cheishvili D, Maayan C, Cohen-Kupiec R, Lefler S, Weil M, Ast G, Razin A. | 07/23/2011 |
| Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells | Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells.
Keren H, Donyo M, Zeevi D, Maayan C, Pupko T, Ast G., Free PMC Article | 07/9/2011 |
| IKAP regulates contactin levels for appropriate cell-cell adhesion that could modulate neuronal growth of neurons during development | IKAP/hELP1 down-regulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression.
Cohen-Kupiec R, Weinstein S, Kantor G, Peer D, Weil M., Free PMC Article | 06/25/2011 |
| IKAP is critical for the development of afferent baroreflex pathways and has therapeutic implications in the management of these patients. | Afferent baroreflex failure in familial dysautonomia.
Norcliffe-Kaufmann L, Axelrod F, Kaufmann H., Free PMC Article | 01/8/2011 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Fine mapping of the 9q31 Hirschsprung's disease locus.
Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM, Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM., Free PMC Articles: PMC2871095, PMC2871095 | 06/30/2010 |
| IKBKAP is a candidate gene for Hirschsprung's disease and was mapped to chromosome 9q31 locus. | Fine mapping of the 9q31 Hirschsprung's disease locus.
Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM, Tang CS, Sribudiani Y, Miao XP, de Vries AR, Burzynski G, So MT, Leon YY, Yip BH, Osinga J, Hui KJ, Verheij JB, Cherny SS, Tam PK, Sham PC, Hofstra RM, Garcia-Barceló MM., Free PMC Articles: PMC2871095, PMC2871095 | 06/28/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | See all PubMed (2) articlesVariation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators. Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients.
Bowes JD, Potter C, Gibbons LJ, Hyrich K, Plant D, Morgan AW, Wilson AG, Isaacs JD, Worthington J, Barton A, BRAGGSS. | 03/25/2009 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes.
Siezen CL, Bont L, Hodemaekers HM, Ermers MJ, Doornbos G, Van't Slot R, Wijmenga C, Houwelingen HC, Kimpen JL, Kimman TG, Hoebee B, Janssen R. | 03/25/2009 |
| IKAP is crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human. | Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
Chen YT, Hims MM, Shetty RS, Mull J, Liu L, Leyne M, Slaugenhaupt SA., Free PMC Article | 01/21/2010 |