{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:40:05Z","timestamp":1791207605166,"version":"4.1.0"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,12,1]]},"DOI":"10.1093\/hmg\/dds354","type":"journal-article","created":{"date-parts":[[2012,8,25]],"date-time":"2012-08-25T01:10:30Z","timestamp":1345857030000},"page":"5078-5090","source":"Crossref","is-referenced-by-count":52,"title":["IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia"],"prefix":"10.1093","volume":"21","author":[{"given":"Paula","family":"Dietrich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanta","family":"Alli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Revathi","family":"Shanmugasundaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Dragatsis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,8,24]]},"reference":[{"key":"key\n\t\t\t\t20170522142748_DDS354C1","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1542\/peds.3.4.468","article-title":"Central autonomic dysfunction with defective lacrimation; report of five cases","volume":"3","author":"Riley","year":"1949","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t20170522142748_DDS354C2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0065-3101(22)00845-3","article-title":"Familial dysautonomia: diagnosis, pathogenesis and management","volume":"21","author":"Axelrod","year":"1974","journal-title":"Adv. Pediatr."},{"key":"key\n\t\t\t\t20170522142748_DDS354C3","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/mus.10499","article-title":"Familial dysautonomia","volume":"29","author":"Axelrod","year":"2004","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522142748_DDS354C4","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/0022-510X(78)90187-9","article-title":"Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia","volume":"39","author":"Pearson","year":"1978","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170522142748_DDS354C5","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1001\/archpedi.1984.02140480049016","article-title":"Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia","volume":"138","author":"Axelrod","year":"1984","journal-title":"Am. J. Dis. Child"},{"key":"key\n\t\t\t\t20170522142748_DDS354C6","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1093\/brain\/awh235","article-title":"Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation","volume":"127","author":"Hilz","year":"2004","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522142748_DDS354C7","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s10286-008-0464-1","article-title":"Cardiac sympathetic hypo-innervation in familial dysautonomia","volume":"18","author":"Goldstein","year":"2008","journal-title":"Clin. Auton. Res."},{"key":"key\n\t\t\t\t20170522142748_DDS354C8","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1097\/00005792-197009000-00001","article-title":"Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature","volume":"49","author":"Brunt","year":"1970","journal-title":"Medicine"},{"key":"key\n\t\t\t\t20170522142748_DDS354C9","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/j.1469-8749.1996.tb12084.x","article-title":"Increased major salivary gland secretion in familial dysautonomia","volume":"38","author":"Mass","year":"1996","journal-title":"Dev. Med. Child. Neurol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C10","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1111\/j.1469-8749.1997.tb07452.x","article-title":"Taste and smell in familial dysautonomia","volume":"39","author":"Gadoth","year":"1997","journal-title":"Dev. Med. Child Neurol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C11","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1086\/318808","article-title":"Familial dysautonomia is caused by mutations of the IKAP gene","volume":"68","author":"Anderson","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522142748_DDS354C12","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1086\/318810","article-title":"Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia","volume":"68","author":"Slaugenhaupt","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522142748_DDS354C13","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1086\/368263","article-title":"Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia","volume":"72","author":"Cuajungco","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522142748_DDS354C14","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1542\/peds.67.4.517","article-title":"Progressive sensory loss in familial dysautonomia","volume":"67","author":"Axelrod","year":"1981","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t20170522142748_DDS354C15","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1517\/14656566.6.4.561","article-title":"Familial dysautonomia: a review of the current pharmacological treatments","volume":"6","author":"Axelrod","year":"2005","journal-title":"Expert Opin. Pharmacother."},{"key":"key\n\t\t\t\t20170522142748_DDS354C16","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/26254","article-title":"IKAP is a scaffold protein of the IkappaB kinase complex","volume":"395","author":"Cohen","year":"1998","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522142748_DDS354C17","doi-asserted-by":"crossref","first-page":"32743","DOI":"10.1074\/jbc.M105303200","article-title":"RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes","volume":"276","author":"Winkler","year":"2001","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522142748_DDS354C18","doi-asserted-by":"crossref","first-page":"3047","DOI":"10.1074\/jbc.M110445200","article-title":"Purification and characterization of the human elongator complex","volume":"277","author":"Hawkes","year":"2002","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522142748_DDS354C19","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.molcel.2006.04.017","article-title":"Transcriptional impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia","volume":"22","author":"Close","year":"2006","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t20170522142748_DDS354C20","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1242\/jcs.013722","article-title":"IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration","volume":"121","author":"Johansen","year":"2008","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170522142748_DDS354C21","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1093\/hmg\/ddr036","article-title":"IKAP\/Elp1 involvment in cytoskeleton regulation and implication for familial dysautonomia","volume":"20","author":"Cheishvili","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522142748_DDS354C22","doi-asserted-by":"crossref","first-page":"31918","DOI":"10.1074\/jbc.M200719200","article-title":"A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling","volume":"277","author":"Holmberg","year":"2002","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522142748_DDS354C23","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.molcel.2005.02.018","article-title":"Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation","volume":"17","author":"Rahl","year":"2005","journal-title":"Mol. Cell"},{"key":"key\n\t\t\t\t20170522142748_DDS354C24","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1261\/rna.7247705","article-title":"An early step in wobble uridine tRNA modification requires the Elongator complex","volume":"11","author":"Huang","year":"2005","journal-title":"RNA"},{"key":"key\n\t\t\t\t20170522142748_DDS354C25","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.molcel.2006.07.031","article-title":"Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis","volume":"24","author":"Esberg","year":"2006","journal-title":"Mol Cell"},{"key":"key\n\t\t\t\t20170522142748_DDS354C26","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/nature08320","article-title":"Modeling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs","volume":"461","author":"Lee","year":"2009","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522142748_DDS354C27","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.cell.2008.11.043","article-title":"Elongator controls the migration and differentiation of cortica neurons through acetylation of alpha-tubulin","volume":"136","author":"Creppe","year":"2009","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522142748_DDS354C28","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1016\/j.bcp.2008.03.006","article-title":"Deregulated expression of pro-survival and pro-apoptotic p53-dependent genes upon Elongator deficiency in colon cancer cells","volume":"75","author":"Cornez","year":"2008","journal-title":"Biochem. Pharmacol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C29","doi-asserted-by":"crossref","first-page":"e15590","DOI":"10.1371\/journal.pone.0015590","article-title":"Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia","volume":"5","author":"Boone","year":"2010","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170522142748_DDS354C30","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0378-1119(01)00737-5","article-title":"Genomic organization and chromosomal localization of the mouse IKBKAP gene","volume":"279","author":"Coli","year":"2001","journal-title":"Gene"},{"key":"key\n\t\t\t\t20170522142748_DDS354C31","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1089\/104454901317094990","article-title":"Cloning, characterization, and genomic structure of the mouse Ikbkap gene","volume":"20","author":"Cuajungco","year":"2001","journal-title":"DNA Cell Biol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C32","doi-asserted-by":"crossref","first-page":"e27015","DOI":"10.1371\/journal.pone.0027015","article-title":"Deletion of exon 20 of the familial dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality","volume":"6","author":"Dietrich","year":"2011","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170522142748_DDS354C33","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1007\/s003350010037","article-title":"Conditional mutagenesis in mice with heat shock promoter-driven cre transgenes","volume":"11","author":"Dietrich","year":"2000","journal-title":"Mamm. Genome"},{"key":"key\n\t\t\t\t20170522142748_DDS354C34","first-page":"379","article-title":"Intrauterine growth retardation in familial dysautonomia","volume":"125","author":"Axelrod","year":"1973","journal-title":"Am. J. Dis. Child"},{"key":"key\n\t\t\t\t20170522142748_DDS354C35","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1126\/science.147.3661.1040","article-title":"Absence of taste-bud papillae in familial dysautonomia","volume":"147","author":"Smith","year":"1965","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522142748_DDS354C36","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.jpeds.2003.10.065","article-title":"Growth hormone treatment in children with familial dysautonomia","volume":"144","author":"Kamboj","year":"2004","journal-title":"J. Pediatr."},{"key":"key\n\t\t\t\t20170522142748_DDS354C37","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.2215\/CJN.01750210","article-title":"Renal transplantation in familial dysautonomia: report of two cases and review of the literature","volume":"5","author":"Rekhtman","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C38","article-title":"Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome","author":"Norcliffe-Kaufmann","year":"2011","journal-title":"J. Hum. Hypertens."},{"key":"key\n\t\t\t\t20170522142748_DDS354C39","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/0022-510X(78)90103-X","article-title":"Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia","volume":"35","author":"Pearson","year":"1978","journal-title":"J. Neurol. Sci."},{"key":"key\n\t\t\t\t20170522142748_DDS354C40","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1113\/jphysiol.1991.sp018497","article-title":"Soma neurofilament immunoreactivity is related to cell size and fibre conduction velocity in rat primary sensory neurons","volume":"435","author":"Lawson","year":"1991","journal-title":"J. Physiol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C41","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/cne.903290208","article-title":"A method for unbiased and efficient estimation of number and mean volume of specified neurons subtypes in rat dorsal root ganglion","volume":"329","author":"Tandrup","year":"1993","journal-title":"J. Comp. Neurol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C42","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1046\/j.0021-8782.2001.00003.x","article-title":"Predominant neuronal B-cell loss in L5 DRG of p75 receptor-deficient mice","volume":"200","author":"Gjerstad","year":"2002","journal-title":"J. Anat."},{"key":"key\n\t\t\t\t20170522142748_DDS354C43","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/S0079-6123(08)61790-2","article-title":"Neuropeptides in morphologically and functionally identified primary afferent neurons in dorsal root ganglia: substance P, CGRP and somatostatin","volume":"104","author":"Lawson","year":"1995","journal-title":"Prog. Brain Res."},{"key":"key\n\t\t\t\t20170522142748_DDS354C44","doi-asserted-by":"crossref","first-page":"4029","DOI":"10.1523\/JNEUROSCI.13-09-04029.1993","article-title":"Neurotrophin receptor genes are expressed in distrinct patterns in developing dorsal root ganglia","volume":"13","author":"Mu","year":"1993","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522142748_DDS354C45","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1002\/cne.903570302","article-title":"Are the neurons in the dorsal root ganglion pseudounipolar? A comparison of the number of neurons and number of myelinated and unmyelinated fibres in the dorsal root","volume":"357","author":"Tandrup","year":"1995","journal-title":"J. Comp. Neurol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C46","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1126\/science.39339","article-title":"Tyrosine hydroxylase immunoreactivity in familial dysautonomia","volume":"206","author":"Pearson","year":"1979","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522142748_DDS354C47","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1007\/s11064-008-9662-4","article-title":"Plasma catechols in familial dysautonomia: a long-term follow-up study","volume":"33","author":"Goldstein","year":"2008","journal-title":"Neurochem. Res."},{"key":"key\n\t\t\t\t20170522142748_DDS354C48","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/0002-9394(87)90179-6","article-title":"Optic nerve dysfunction in familial dysautonomia","volume":"104","author":"Diamond","year":"1987","journal-title":"Am. J. Ophthalmol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C49","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1097\/00041327-199706000-00006","article-title":"Optic neuropathy in familial dysautonomia","volume":"17","author":"Groom","year":"1997","journal-title":"J. Neuroophthalmol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C50","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/WNO.0b013e318230feab","article-title":"Clinical neuro-ophthalmic findings in familial dysautonomia","volume":"32","author":"Mendoza-Santiesteban","year":"2012","journal-title":"J. Neuroophthalmol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C51","doi-asserted-by":"crossref","first-page":"3198","DOI":"10.1093\/brain\/awr168","article-title":"Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?","volume":"134","author":"Macefield","year":"2011","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522142748_DDS354C52","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s00109-006-0137-2","article-title":"Therapeutic potential and mechanism of kinetin as treatment for the human splicing disease familial dysautonomia","volume":"85","author":"Hims","year":"2007","journal-title":"J. Mol. Med. (Berl)"},{"key":"key\n\t\t\t\t20170522142748_DDS354C53","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1203\/PDR.0b013e31822e1825","article-title":"Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia","volume":"70","author":"Axelrod","year":"2011","journal-title":"Pediatr. Res."},{"key":"key\n\t\t\t\t20170522142748_DDS354C54","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S0006-291X(03)00971-9","article-title":"Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia","volume":"306","author":"Anderson","year":"2003","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170522142748_DDS354C55","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.bbrc.2005.08.054","article-title":"Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia","volume":"336","author":"Anderson","year":"2005","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170522142748_DDS354C56","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/s12017-007-8019-5","article-title":"The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies","volume":"10","author":"Rubin","year":"2008","journal-title":"Neuromolecular Med."},{"key":"key\n\t\t\t\t20170522142748_DDS354C57","doi-asserted-by":"crossref","first-page":"e15884","DOI":"10.1371\/journal.pone.0015884","article-title":"Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells","volume":"5","author":"Keren","year":"2010","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170522142748_DDS354C58","doi-asserted-by":"crossref","first-page":"e32050","DOI":"10.1371\/journal.pone.0032050","article-title":"IKAP\/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration","volume":"7","author":"Hunnicutt","year":"2012","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170522142748_DDS354C59","doi-asserted-by":"crossref","first-page":"3963","DOI":"10.1242\/dev.128.20.3963","article-title":"RET signaling is essential for migration, axonal growth and axon guidance of developing sympathetic neurons","volume":"128","author":"Enomoto","year":"2001","journal-title":"Development"},{"key":"key\n\t\t\t\t20170522142748_DDS354C60","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0092-8674(94)90213-5","article-title":"Lack of neurotrophin-3 leads to deficiencies in the peripheral nervous system and loss of limb proprioceptive afferents","volume":"77","author":"Ernfors","year":"1994","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522142748_DDS354C61","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/neu.10055","article-title":"Time course of morphological alterations of fungiform papillae and taste buds following chorda tympani transection in neonatal rats","volume":"51","author":"Sollars","year":"2002","journal-title":"J. Neurobiol."},{"key":"key\n\t\t\t\t20170522142748_DDS354C62","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/j.brainres.2006.04.044","article-title":"Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue","volume":"1129","author":"Ichikawa","year":"2007","journal-title":"Brain Res."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/21\/23\/5078\/17257282\/dds354.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,28]],"date-time":"2024-04-28T18:09:17Z","timestamp":1714327757000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/dds354"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,24]]},"references-count":62,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2012,8,24]]},"published-print":{"date-parts":[[2012,12,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/dds354","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2012,8,24]]}}}