IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
Open accessAbstract
The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders. The identification of the mutations that cause familial dysautonomia (FD), an autosomal recessive disorder that impacts sensory and autonomic neurons, was aided by the release of the human DNA sequence. The identification and characterization of the genetic cause of FD have changed the natural history of this disease. Genetic testing programs, which were established shortly after the disease-causing mutations were identified, have almost completely eliminated the birth of children with this disorder. Characterization of the principal disease-causing mutation has led to the development of therapeutic modalities that ameliorate its effect, while the development of mouse models that recapitulate the impact of the mutation has allowed for the in-depth characterization of its impact on neuronal development and survival. The intense research focus on this disorder, while clearly benefiting the FD patient population, also serves as a model for the positive impact focused research efforts can have on the future of other genetic diseases. Here, we present the research advances and scientific breakthroughs that have changed and will continue to change the natural history of this centuries-old genetic disease.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Familial dysautonomia is a hereditary sensory and autonomic neuropathy in which feeding and GI motor problems are often present from infancy.
“Familial dysautonomia is a hereditary sensory and autonomic neuropathy in which feeding and GI motor problems are often present from infancy (Rubin et al., 2017).”
From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Rubin et al., 2017
The Introduction describes familial dysautonomia as a congenital sensory and autonomic neuropathy, and The FD phenotype identifies it as a hereditary sensory and autonomic neuropathy with typical swallowing difficulty and gastrointestinal dysfunction. The copy does not establish that feeding and GI motor problems are often present from infancy, or specifically characterize the GI dysfunction as a motor problem. (LLM, conf=0.86)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Genomic responses in mouse models poorly mimic human inflammatory diseases
Seok, J., Warren, H. S., Cuenca, A. G., Mindrinos, M. N., Baker, H. V., Xu, W., Richards, D. R., McDonald-Smith, G. P., Gao, H., Hennessy, L., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1222878110 · Cited by 3,005 · see citing works
The Evolutionary Landscape of Alternative Splicing in Vertebrate Species
Barbosa-Morais, N. L., Irimia, M., Pan, Q., Xiong, H. Y., Gueroussov, S., Lee, L. J., Slobodeniuc, V., Kutter, C., Watt, S., Çolak, R., et al. (2012) · Science · doi:10.1126/science.1230612 · Cited by 1,063 · see citing works
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
Lee, G., Papapetrou, E. P., Kim, H., Chambers, S. M., Tomishima, M. J., Fasano, C. A., Ganat, Y. M., Menon, J., Shimizu, F., Viale, A. J., et al. (2009) · Nature · doi:10.1038/nature08320 · Cited by 867 · see citing works
Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia
Slaugenhaupt, S. A., Blumenfeld, A., Gill, S., Leyne, M., Mull, J., Cuajungco, M. P., Liebert, C. B., Chadwick, B. P., Idelson, M., Reznik, L., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318810 · Cited by 591 · see citing works
The Flaws and Human Harms of Animal Experimentation
AKHTAR, A. (2015) · Cambridge Quarterly of Healthcare Ethics · doi:10.1017/s0963180115000079 · Cited by 527 · cited 1× · see citing works
“The development of FD mouse models Recent scientific studies have challenged the validity of using mouse models to recapitulate a human disease phenotype and predict the responsiveness of humans to drug candidates.(81,82) Table 1 Substances that increase levels of the exon 20-containing ELP1 transcript”
BackgroundTissue-specific transcriptional regulation has diverged significantly between human and mouse
Odom, D. T., Dowell, R. D., Jacobsen, E. S., Gordon, W., Danford, T. W., MacIsaac, K. D., Rolfe, P. A., Conboy, C. M., Gifford, D. K., & Fraenkel, E. (2007) · Nature Genetics · doi:10.1038/ng2047 · Cited by 506 · see citing works
Creppe, C., Malinouskaya, L., Volvert, M.-L., Gillard, M., Close, P., Malaise, O., Laguesse, S., Cornez, I., Rahmouni, S., Orménèse, S., et al. (2009) · Cell · doi:10.1016/j.cell.2008.11.043 · Cited by 471 · see citing works
Familial Dysautonomia Is Caused by Mutations of the IKAP Gene
Anderson, S. L., Coli, R., Daly, I., Kichula, E. A., Rork, M. J., Volpi, S. A., Ekstein, J., & Rubin, B. Y. (2001) · The American Journal of Human Genetics · doi:10.1086/318808 · Cited by 429 · see citing works
Self-citationHYPERTENSIVE CRISIS DUE TO MONOAMINE-OXIDASE INHIBITORS
Blackwell, B. (1963) · The Lancet · doi:10.1016/s0140-6736(63)92743-0 · Cited by 335 · see citing works
Lowering of serum cholesterol in hypercholesterolemic humans by tocotrienols (palmvitee)
Qureshi, A. A., Qureshi, N., Wright, J. J. K., Shen, Z., Kramer, G., GAPOR, A., Chong, Y. H., DeWitt, G. R., Ong, A. S. H., Peterson, D. M., et al. (1991) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/53.4.1021s · Cited by 315 · see citing works
Central autonomic dysfunction with defective lacrimation; report of five cases.
Cm, R., & Day, R. L. (1949) · PubMed · Cited by 302 · see citing works
IKAP is a scaffold protein of the IκB kinase complex
Cohen, L., Henzel, W. J., & Baeuerle, P. A. (1998) · Nature · doi:10.1038/26254 · Cited by 288 · see citing works
Purification and Characterization of the Human Elongator Complex
Hawkes, N. A., Otero, G., Winkler, G. S., Marshall, N. F., Dahmus, M. E., Krappmann, D., Scheidereit, C., Thomas, C. L., Schiavo, G., Erdjument‐Bromage, H., et al. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m110445200 · Cited by 246 · see citing works
Response of hypercholesterolemic subjects to administration of tocotrienols
Qureshi, A. A., Bradlow, B. A., Brace, L. D., Manganello, J. M., Peterson, D. M., Pearce, B. C., Wright, J. J. K., GAPOR, A., & Elson, C. E. (1995) · Lipids · doi:10.1007/bf02536620 · Cited by 206 · see citing works
Tissue-specific splicing factor gene expression signatures
Grosso, A. R., Gomes, A. Q., Barbosa‐Morais, N. L., Caldeira, S., Thorne, N., Grech, G., Lindern, M. V., & Carmo‐Fonseca, M. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn463 · Cited by 195 · see citing works
Comparative analysis detects dependencies among the 5′ splice-site positions
Carmel, I., Tal, S., Vig, I., & Ast, G. (2004) · RNA · doi:10.1261/rna.5196404 · Cited by 194 · see citing works
Axelrod, F. B. (2004) · Muscle & Nerve · doi:10.1002/mus.10499 · Cited by 187 · see citing works
Pw, B., & MCKUSICK, V. A. (1970) · Medicine · doi:10.1097/00005792-197009000-00001 · Cited by 175 · see citing works
Rahl, P. B., Chen, C. Z., & Collins, R. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.02.018 · Cited by 169 · see citing works
Peripheral Nerve Abnormalities in the Riley-Day Syndrome
Aguayo, A. J. (1971) · Archives of Neurology · doi:10.1001/archneur.1971.00480320034003 · Cited by 155 · see citing works
Human Elongator facilitates RNA polymerase II transcription through chromatin
Kim, J., Lane, W. S., & Reinberg, D. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.251672198 · Cited by 154 · see citing works
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
Slaugenhaupt, S. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddh046 · Cited by 153 · see citing works
Familial Dysautonomia: Diagnosis, Pathogenesis and Management
Axelrod, F. B., NACHTIGAL, R., & Dancis, J. (1974) · Advances in Pediatrics · doi:10.1016/s0065-3101(22)00845-3 · Cited by 153 · see citing works
Daguenet, É., Dujardin, G., & Valcárcel, J. (2015) · EMBO Reports · doi:10.15252/embr.201541116 · Cited by 151 · see citing works
Alternative splicing of conserved exons is frequently species-specific in human and mouse
Pan, Q., Bakowski, M. A., Morris, Q., Zhang, W., Frey, B. J., Hughes, T. R., & Blencowe, B. J. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.12.004 · Cited by 149 · see citing works
Elongator complex: how many roles does it play?
Svejstrup, J. Q. (2007) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2007.04.005 · Cited by 146 · see citing works
Pearson, J., Pytel, B. A., Grover‐Johnson, N., Axelrod, F. B., & Dancis, J. (1978) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(78)90103-x · Cited by 136 · see citing works
Pearson, J. M., & Pytel, B. A. (1978) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(78)90187-9 · Cited by 130 · see citing works
23. The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease
Ekstein, J., & Katzenstein, H. M. (2001) · Advances in genetics · doi:10.1016/s0065-2660(01)44087-9 · Cited by 128 · see citing works
Elongator, a conserved complex required for wobble uridine modifications in Eukaryotes
Karlsborn, T., Tükenmez, H., Mahmud, A. K. M. F., Xu, F., Xu, H., & Byström, A. S. (2014) · RNA Biology · doi:10.4161/15476286.2014.992276 · Cited by 127 · see citing works
Chen, Y., Hims, M. M., Shetty, R. S., Mull, J., Liu, L., Leyne, M., & Slaugenhaupt, S. A. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01313-08 · Cited by 116 · see citing works
The IκB Kinase (IKK) Complex Is Tripartite and Contains IKKγ but Not IKAP as a Regular Component
Krappmann, D., Hatada, E. N., Tegethoff, S., Li, J., Klippel, A., Giese, K., Baeuerle, P. A., & Scheidereit, C. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m003902200 · Cited by 114 · see citing works
Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia
Yoshida, M., Kataoka, N., Miyauchi, K., Ohe, K., Iida, K., Yoshida, S., Nojima, T., Okuno, Y., Onogi, H., Usui, T., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1415525112 · Cited by 111 · see citing works
A Novel Specific Role for IκB Kinase Complex-associated Protein in Cytosolic Stress Signaling
Holmberg, C., Katz, S., Lerdrup, M., Herdegen, T., Jäättelä, M., Aronheim, A., & Kallunki, T. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m200719200 · Cited by 106 · see citing works
Johansen, L. D., Naumanen, T., Karnoe, A., Westerlund, N., Gromova, I., Junttila, M. R., Nielsen, C. W., Bøttzauw, T., Tolkovsky, A. M., Westermarck, J. K., et al. (2008) · Journal of Cell Science · doi:10.1242/jcs.013722 · Cited by 104 · see citing works
Incidence of familial dysautonomia in Israel 1977–1981
Maayan, C., Kaplan, E. L., Shachar, S., Peleg, O., & Godfrey, S. (1987) · Clinical Genetics · doi:10.1111/j.1399-0004.1987.tb03334.x · Cited by 103 · see citing works
Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia
Axelrod, F. B., Liebes, L., Simson, G. G., Mendoza, S., Mull, J., Leyne, M., Norcliffe‐Kaufmann, L., Kaufmann, H., & Slaugenhaupt, S. A. (2011) · Pediatric Research · doi:10.1203/pdr.0b013e31822e1825 · Cited by 96 · see citing works
Survival in familial dysautonomia: Impact of early intervention
Axelrod, F. B., Goldberg, J. D., Ye, X. Y., & Maayan, C. (2002) · The Journal of Pediatrics · doi:10.1067/mpd.2002.127088 · Cited by 85 · see citing works
Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs.
Axelrod, F. B. (2002) · Clinical Autonomic Research · doi:10.1007/s102860200014 · Cited by 82 · see citing works
Exaggerated Response to Infused Norepinephrine in Familial Dysautonomia
Smith, A. A., & Dancis, J. (1964) · New England Journal of Medicine · doi:10.1056/nejm196404022701403 · Cited by 82 · see citing works
Pharmacology of Modulators of Alternative Splicing
Bates, D. O., Morris, J. C., Oltean, S., & Donaldson, L. F. (2016) · Pharmacological Reviews · doi:10.1124/pr.115.011239 · Cited by 81 · see citing works
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia
Anderson, S. L., Qiu, J., & Rubin, B. Y. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2003.09.019 · Cited by 81 · see citing works
Self-citationIdentification of the first non‐Jewish mutation in familial Dysautonomia
Leyne, M., Mull, J., Gill, S., Cuajungco, M. P., Oddoux, C., Blumenfeld, A., Maayan, C., Gusella, J. F., Axelrod, F. B., & Slaugenhaupt, S. A. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20052 · Cited by 72 · see citing works
Current treatments in familial dysautonomia
Palma, J., Norcliffe‐Kaufmann, L., Fuente‐Mora, C., Percival, L., Mendoza‐Santiesteban, C. E., & Kaufmann, H. (2014) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2014.970530 · Cited by 71 · see citing works
Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia
Anderson, S. L., Qiu, J., & Rubin, B. Y. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(03)00971-9 · Cited by 71 · see citing works
Self-citationThe Sural Nerve in Familial Dysautonomia
Pearson, J., Dancis, J., Axelrod, F. B., & Grover, N. (1975) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-197509000-00004 · Cited by 71 · see citing works
Hilz, M. J. (2004) · Brain · doi:10.1093/brain/awh235 · Cited by 71 · see citing works
Familial Dysautonomia: Update and Recent Advances
Simson, G. G., & Axelrod, F. B. (2006) · Current problems in pediatric and adolescent health care · doi:10.1016/j.cppeds.2005.12.001 · Cited by 70 · see citing works
Ophthalmologic Studies of Familial Dysautonomia
Goldberg, M. F. (1968) · Archives of Ophthalmology · doi:10.1001/archopht.1968.00980050734011 · Cited by 70 · see citing works
(2004) · Obstetrics and Gynecology · doi:10.1097/00006250-200408000-00050 · Cited by 63 · see citing works
Clinical Neuro-ophthalmic Findings in Familial Dysautonomia
Mendoza‐Santiesteban, C. E., Hedges, T. R., Norcliffe‐Kaufmann, L., Warren, F. A., Reddy, S., Axelrod, F. B., & Kaufmann, H. (2011) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0b013e318230feab · Cited by 58 · see citing works
OCULAR RESPONSES TO AUTONOMIC DRUGS IN FAMILIAL DYSAUTONOMIA.
Smith, A. A., Dancis, J., & Breinin, G. M. (1965) · PubMed · Cited by 57 · see citing works
Ikbkap/Elp1 Deficiency Causes Male Infertility by Disrupting Meiotic Progression
Lin, F., Shen, L., Jang, C., Falnes, P. Ø., & Zhang, Y. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003516 · Cited by 55 · see citing works
The frequent evolutionary birth and death of functional promoters in mouse and humanPreprint
Young, R. S., Hayashizaki, Y., Andersson, R., Sandelin, A., Kawaji, H., Itoh, M., Lassmann, T., Carninci, P., Bickmore, W. A., Forrest, A. R. R., et al. (2015) · Genome Research · doi:10.1101/gr.190546.115 · Cited by 54 · see citing works
DEFICIENT VASCULAR INNERVATION IN FAMILIAL DYSAUTONOMIA, AN EXPLANATION FOR VASOMOTOR INSTABILITY
Grover‐Johnson, N., & PEARSON, J. (1976) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.1976.tb00498.x · Cited by 52 · see citing works
IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia
Dietrich, P., Alli, S., Shanmugasundaram, R., & Dragatsis, I. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds354 · Cited by 51 · see citing works
RESPONSES TO INFUSED METHACHOLINE IN FAMILIAL DYSAUTONOMIA
Smith, A. A., Hirsch, J. I., & Dancis, J. (1965) · PEDIATRICS · doi:10.1542/peds.36.2.225 · Cited by 50 · see citing works
Modulation of Alternative Splicing with Chemical Compounds in New Therapeutics for Human Diseases
Ohe, K., & Hagiwara, M. (2015) · ACS Chemical Biology · doi:10.1021/cb500697f · Cited by 49 · see citing works
Qureshi, A. A., & Khan, D. A. (2016) · doi:10.4172/2155-9880.1000434 · Cited by 47 · see citing works
Familial dysautonomia: a review of the current pharmacological treatments
Axelrod, F. B. (2005) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.6.4.561 · Cited by 45 · see citing works
Rubin, B. Y., & Anderson, S. L. (2007) · NeuroMolecular Medicine · doi:10.1007/s12017-007-8019-5 · Cited by 44 · see citing works
Self-citationLehavi, O., Aizenstein, O., Bercovich, D., Pavzner, D., Shomrat, R., Orr‐Urtreger, A., & Yaron, Y. (2003) · Genetic Testing · doi:10.1089/109065703322146830 · Cited by 43 · see citing works
Fares, F., Badarneh, K., Abosaleh, M., Harari‐Shaham, A., Diukman, R., & David, M. (2008) · Prenatal Diagnosis · doi:10.1002/pd.1943 · Cited by 43 · see citing works
Simson, G. G., Goldberg, J. D., Rolnitzky, L. M., Mull, J., Leyne, M., Voustianiouk, A., Slaugenhaupt, S. A., & Axelrod, F. B. (2009) · Pediatric Research · doi:10.1203/pdr.0b013e318194fd52 · Cited by 42 · see citing works
Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia
Morini, E., Dietrich, P., Salani, M., Downs, H. M., Wojtkiewicz, G. R., Alli, S., Brenner, A., Nilbratt, M., Leclair, J. W., Oaklander, A. L., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddv634 · Cited by 41 · see citing works
Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells
Keren, H., Donyo, M., Zeevi, D., Maayan, C., Pupko, T., & Ast, G. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015884 · Cited by 40 · see citing works
Dietrich, P., Yue, J., Shuyu, E., & Dragatsis, I. (2011) · PLoS ONE · doi:10.1371/journal.pone.0027015 · Cited by 39 · see citing works
Axelrod, F. B., Krey, L. C., Glickstein, J. S., Weider, J., & FRIEDMAN, D. M. (1995) · Journal of the Autonomic Nervous System · doi:10.1016/0165-1838(95)00023-q · Cited by 38 · see citing works
HYPERTENSIVE CRISIS ASSOCIATED WITH MONOAMINE-OXIDASE INHIBITORS
Blackwell, B., Marley, E., & Ryle, A. P. (1964) · The Lancet · doi:10.1016/s0140-6736(64)91553-3 · Cited by 37 · see citing works
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. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt126 · Cited by 33 · see citing works
Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia
Mendoza‐Santiesteban, C. E., Palma, J., Hedges, T. R., Laver, N., Farhat, N. A., Norcliffe‐Kaufmann, L., & Kaufmann, H. (2017) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlw118 · Cited by 33 · see citing works
Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia
Anderson, S. L., & Rubin, B. Y. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.08.054 · Cited by 32 · see citing works
Self-citationPattern of plasma levels of catecholamines in familial dysautonomia
Axelrod, F. B., Goldstein, D. S., Holmes, C. S., Berlin, D., & Kopin, I. J. (1996) · Clinical Autonomic Research · doi:10.1007/bf02291135 · Cited by 32 · see citing works
Cyclic Vomiting Associated With Excessive Dopamine in Riley-day Syndrome
Kaufmann, H., Axelrod, F. B., & Kaufmann, H. (2012) · Journal of Clinical Gastroenterology · doi:10.1097/mcg.0b013e3182582cbf · Cited by 31 · see citing works
Brainstem reflexes in patients with familial dysautonomia
Gutiérrez, J., Norcliffe‐Kaufmann, L., & Kaufmann, H. (2014) · Clinical Neurophysiology · doi:10.1016/j.clinph.2014.06.028 · Cited by 29 · see citing works
Bickel, A. (2002) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.73.3.299 · Cited by 27 · see citing works
Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case–Control Study
Palma, J., Norcliffe‐Kaufmann, L., Perez, M. A., Spalink, C. L., & Kaufmann, H. (2017) · SLEEP · doi:10.1093/sleep/zsx083 · Cited by 26 · see citing works
Liu, B., Anderson, S. L., Qiu, J., & Rubin, B. Y. (2013) · FEBS Journal · doi:10.1111/febs.12355 · Cited by 23 · see citing works
Self-citationAnesthesia management of familial dysautonomia
Ngai, J. Y., Kreynin, I., Kim, J. T., & Axelrod, F. B. (2006) · Pediatric Anesthesia · doi:10.1111/j.1460-9592.2006.01947.x · Cited by 23 · see citing works
Fludrocortisone in patients with familial dysautonomia
Axelrod, F. B., Goldberg, J. D., Rolnitzky, L. M., Mull, J., Mann, S. P., Simson, G. G., Berlin, D., & Slaugenhaupt, S. A. (2005) · Clinical Autonomic Research · doi:10.1007/s10286-005-0288-1 · Cited by 23 · see citing works
Cardiac sympathetic hypo-innervation in familial dysautonomia
Goldstein, D. S., Eldadah, B. A., Sharabi, Y., & Axelrod, F. B. (2008) · Clinical Autonomic Research · doi:10.1007/s10286-008-0464-1 · Cited by 21 · see citing works
Cornez, I., Creppe, C., Gillard, M., Hennuy, B., Chapelle, J.-P., Dejardin, E., Merville, M., Close, P., & Chariot, A. (2008) · Biochemical Pharmacology · doi:10.1016/j.bcp.2008.03.006 · Cited by 20 · see citing works
When Diseases Disappear — The Case of Familial Dysautonomia
Lerner, B. H. (2009) · New England Journal of Medicine · doi:10.1056/nejmp0809587 · Cited by 17 · see citing works
Rubin, B. Y., Anderson, S. L., & Kapás, L. (2008) · Antioxidants and Redox Signaling · doi:10.1089/ars.2007.1874 · Cited by 17 · see citing works
Self-citationOhe, K., Yoshida, M., Nakano-Kobayashi, A., Hosokawa, M., Sako, Y., Sakuma, M., Okuno, Y., Usui, T., Ninomiya, K., Nojima, T., et al. (2017) · RNA · doi:10.1261/rna.059428.116 · Cited by 16 · see citing works
Phosphatidylserine enhancesIKBKAPtranscription by activating the MAPK/ERK signaling pathway
Donyo, M., Hollander, D., Abramovitch, Z., Naftelberg, S., & Ast, G. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw011 · Cited by 14 · see citing works
Axelrod, F. B., Rolnitzky, L. M., Simson, G. G., Berlin, D., & Kaufmann, H. (2012) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2012.05.038 · Cited by 13 · see citing works
Anderson, S. L., Liu, B., Qiu, J., Sturm, A. J., Schwartz, J. A., Peters, A. J., Sullivan, K. A., & Rubin, B. Y. (2012) · Molecular Nutrition & Food Research · doi:10.1002/mnfr.201100670 · Cited by 13 · see citing works
Self-citationCheishvili, D., Dietrich, P., Maayan, C., Even, A., Weil, M., Dragatsis, I., & Razin, A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0094612 · Cited by 12 · see citing works
Perioperative management of familial dysautonomia
Weingarten, T. N., Šprung, J., & Burgher, A. H. (2007) · European Journal of Anaesthesiology · doi:10.1017/s026502150600192x · Cited by 12 · see citing works
Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study
Cheishvili, D., Maayan, C., Holzer, N., Tsenter, J., Lax, E., Sophie Petropoulos, A., & Razin, A. (2016) · Journal of Molecular Neuroscience · doi:10.1007/s12031-016-0760-5 · Cited by 11 · see citing works
Perioperative use of dexmedetomidine in an infant with familial dysautonomia
Abulhasan, Y. B., Buu, N., & Frigon, C. (2009) · British Journal of Anaesthesia · doi:10.1093/bja/aep178 · Cited by 10 · see citing works
Hervé, M., & Ibrahim, E. C. (2017) · Neurobiology of Disease · doi:10.1016/j.nbd.2017.04.009 · Cited by 8 · see citing works
Cook‐Sather, S. D., Viola, L., Zur, K. B., Rubin, B. Y., & Riou, B. (2012) · Anesthesiology · doi:10.1097/aln.0b013e318267084d · Cited by 7 · see citing works
Self-citationAxelrod, F. B., & Hilz, M. J. (2003) · Encyclopedia of the Neurological Sciences · doi:10.1016/b0-12-226870-9/00041-1 · Cited by 5 · see citing works
Dinwiddie, R., & Sonnappa, S. (2006) · Elsevier eBooks · doi:10.1016/b978-0-7216-3695-5.50072-9 · Cited by 1 · see citing works
Flagged first, then by citations
2 of the 98 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Gastrointestinal motility disorders in neurologic disease
Camilleri, M. (2021) · Journal of Clinical Investigation · doi:10.1172/jci143771 · Cited by 211 · see citing works
Germline Elongator mutations in Sonic Hedgehog medulloblastoma
Waszak, S. M., Robinson, G. W., Gudenas, B. L., Smith, K. S., Forget, A., Kojic, M., García-López, J., Hadley, J. L., Hamilton, K. V., Indersie, É., et al. (2020) · Nature · doi:10.1038/s41586-020-2164-5 · Cited by 164 · see citing works
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Ajiro, M., Awaya, T., Kim, Y. J., Iida, K., Denawa, M., Tanaka, N., Kurosawa, R., Matsushima, S., Shibata, S., Sakamoto, T., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24705-5 · Cited by 41 · see citing works
Bencsik, P., Gömöri, K., Szabados, T., Sántha, P., Helyes, Z., Jancsó, G., Ferdinándy, P., & Görbe, A. (2020) · British Journal of Pharmacology · doi:10.1111/bph.15021 · Cited by 19 · see citing works
Forward Genetic Screen for Caenorhabditis elegans Mutants with a Shortened Locomotor Healthspan
Kawamura, K., & MARUYAMA, I. N. (2019) · G3 Genes Genomes Genetics · doi:10.1534/g3.119.400241 · Cited by 18 · see citing works
Anderson, S. L., Fasih-Ahmad, F., Evans, A. J., & Rubin, B. Y. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac133 · Cited by 2 · see citing works
Self-citationLevashov, A., Рустамовна, З. С., Valiev, T. T., Строганова, А. М., Khochenkov, D. A., Grigorenko, V. A., Михайлова, Е. В., Тюрина, E. В., Ryzhova, M. V., Horielyshev, S. K., et al. (2023) · Journal of Modern Oncology · doi:10.26442/18151434.2023.3.202437 · Cited by 2 · see citing works
Aluma, B. E. B., Porges, R., Tripto‐Shkolnik, L., Keler, S., Gruber, N., Dagan, A., Modan‐Moses, D., & Levy‐Shraga, Y. (2025) · Calcified Tissue International · doi:10.1007/s00223-025-01400-x · Cited by 1 · see citing works
Advances in the treatment of familial dysautonomia: what does the future hold?
Marra, M. G., Kuijpers, M., Kaufmann, H., & González‐Duarte, A. (2025) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2025.2525400 · Cited by 1 · see citing works
Central Nervous System Rare Disease Drug Development
Williams, J., & Nakas, N. (2021) · Springer eBooks · doi:10.1007/978-3-030-78605-2_11 · Cited by 1 · see citing works
Maková, B., Mik, V., Lišková, B., Drašarová, L., Medvedíková, M., Hořínková, A., Vojta, P., Zatloukal, M., Plíhalová, L., Hönig, M., et al. (2024) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2024.117176 · Cited by 1 · see citing works
Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction
Shouman, K., Camilleri, M., & Singer, W. (2026) · Autonomic Neuroscience · doi:10.1016/j.autneu.2026.103474
Current insights into neural crest cell development and pathologies
Charney, R. M., Prasad, M. S., & García‐Castro, M. I. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-817988-8.00011-7
Case report: Perioperative management of a patient with familial dysautonomia
Melodie, S., Laura, V., Minnea, K., Joseph Layon, A., & Ettore, C. (2021) · Journal of Clinical Intensive Care and Medicine · doi:10.29328/journal.jcicm.1001038
Induced pluripotent stem cells for studying genetic autonomic disorders
Ulrichs, H., Wu, H. F., & Zeltner, N. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85767-3.00010-4
Hipotensión ortostática: mecanismos, etiología y principios de tratamiento
Marroun, I. (2023) · EMC - Tratado de Medicina · doi:10.1016/s1636-5410(22)47466-6
Ipotensione ortostatica: meccanismi, eziologie e principi di trattamento
Marroun, I. (2023) · EMC - AKOS - Trattato di Medicina · doi:10.1016/s1634-7358(23)47516-x
Del-Pozo-Rodríguez, J. (2020) · theses.fr (ABES) · doi:10.70675/c4e031efz0a8bz4cfaz93abza990eb954d53
Jamalpour, M. R., & Jabbari, Z. (2026) · Avicenna journal of dental research · doi:10.34172/ajdr.4591
Hypotension orthostatique : mécanismes, étiologies et principes de traitement
Blétry, O., & Marroun, I. (2013) · Time to knit · doi:10.1016/s1634-6939(13)59290-8
- Authors
- Rubin, B., & Anderson, S.
- Affiliations
- Fordham University (US)
- Corresponding author
- Rubin, Berish
- Anderson, Sylvia
- Venue
- The Application of Clinical Genetics
- Publisher
- Informa UK Limited
- Published
- 2017-12
- Volume
- Volume 10
- Pages
- 95-103
- ISSN
- 1178-704X (ISSN-L)
- PMC
- PMC5735983
- OpenAlex
- W2775249211
- Cited by
- 21
- References
- 98
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 1 · 2023: 3 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 2 · 2013: 1
- FWCI
- 0.17
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- The Application of Clinical Genetics (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Dove Medical Press (Taylor and Francis Group) (submittedVersion, cc-by-nc)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Surgery › Congenital gastrointestinal and neural anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- familial dysautonomia, IKBKAP, ELP1, genetic mutations, autosomal recessive disorder, genetic testing, mouse model, neuronal development, neuronal survival, natural history of disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
