| Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia. | Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.
Leonard CE, Quiros J, Lefcort F, Taneyhill LA., Free PMC Article | 07/16/2022 |
| Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation. | Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation.
Chen WT, Tseng HY, Jiang CL, Lee CY, Chi P, Chen LY, Lo KY, Wang IC, Lin FJ., Free PMC Article | 12/11/2021 |
| Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia. | Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.
Vahidi G, Flook H, Sherk V, Mergy M, Lefcort F, Heveran CM., Free PMC Article | 11/22/2021 |
| Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility. | Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility.
Yang KT, Inoue A, Lee YJ, Jiang CL, Lin FJ., Free PMC Article | 11/21/2020 |
| 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 |
| Although mitochondrial impairment was detected in all Ikbkap-deficient retinal neurons, retinal ganglion cells were the only cell type to degenerate; the survival of other retinal neurons was unaffected. | Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia.
Ueki Y, Shchepetkina V, Lefcort F., Free PMC Article | 12/22/2018 |
| data reveal an essential function for Ikbkap that extends beyond the peripheral nervous system to CNS development and function | The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.
Chaverra M, George L, Mergy M, Waller H, Kujawa K, Murnion C, Sharples E, Thorne J, Podgajny N, Grindeland A, Ueki Y, Eiger S, Cusick C, Babcock AM, Carlson GA, Lefcort F., Free PMC Article | 06/23/2018 |
| Results show that although Ikbkap is not required for normal development of retinal ganglion cells, its loss causes a slow, progressive retinal ganglion cells degeneration most severely in the temporal retina, which is later followed by indirect photoreceptor loss and complete retinal disorganization. | Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia.
Ueki Y, Ramirez G, Salcedo E, Stabio ME, Lefcort F., Free PMC Article | 10/28/2017 |
| Our results show that tissue-specific expression of RBM24 can explain the neuron-specific aberrant splicing of IKBKAP exon 20 in familial dysautonomia, and that ectopic expression of RBM24 in neuronal tissue could be a novel therapeutic target of the disease. | RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.
Ohe K, Yoshida M, Nakano-Kobayashi A, Hosokawa M, Sako Y, Sakuma M, Okuno Y, Usui T, Ninomiya K, Nojima T, Kataoka N, Hagiwara M., Free PMC Article | 10/14/2017 |
| ELP1 has a neuron autonomous role in sympathetic and sensory target tissue innervation | A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.
Jackson MZ, Gruner KA, Qin C, Tourtellotte WG., Free PMC Article | 08/9/2014 |
| 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 |
| Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. | Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons.
George L, Chaverra M, Wolfe L, Thorne J, Close-Davis M, Eibs A, Riojas V, Grindeland A, Orr M, Carlson GA, Lefcort F., Free PMC Article | 01/11/2014 |
| our study not only reveals a novel function of IKAP in meiosis, but also suggests that IKAP contributes to this process partly by exerting its effect on transcription and tRNA modification | Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression.
Lin FJ, Shen L, Jang CW, Falnes PØ, Zhang Y., Free PMC Article | 09/14/2013 |
| IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia. | IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia.
Dietrich P, Alli S, Shanmugasundaram R, Dragatsis I., Free PMC Article | 04/13/2013 |
| IKAP is essential for expression of specific genes involved in cardiac morphogenesis, and cardiac failure is the likely cause of abnormal vascular development and embryonic lethality; deletion of exon 20 abolishes gene function | Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.
Dietrich P, Yue J, E S, Dragatsis I., Free PMC Article | 03/31/2012 |
| 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 |
| description of a humanized IKBKAP transgenic mouse that models a tissue-specific human splicing defect | A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA., Free PMC Article | 01/21/2010 |
| mutations in the human I-kappaB kinase-associated protein (IKBKAP) gene are responsible for familial dysautonomia (FD).no animal model of FD currently exists, cloning of the mouse Ikbkap gene is an important step toward creating a mouse model for FD | Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA. | 01/21/2010 |