{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T09:39:22Z","timestamp":1778233162322,"version":"3.51.4"},"reference-count":92,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,2,4]],"date-time":"2023-02-04T00:00:00Z","timestamp":1675468800000},"content-version":"vor","delay-in-days":187,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2022,8]]},"DOI":"10.1016\/j.ajhg.2022.07.004","type":"journal-article","created":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T14:30:43Z","timestamp":1659018643000},"page":"1534-1548","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA"],"prefix":"10.1016","volume":"109","author":[{"given":"Giulia","family":"Romano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Riccardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Bussani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Vodret","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danilo","family":"Licastro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Ragone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Ronzitti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Morini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan A.","family":"Slaugenhaupt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2678-3459","authenticated-orcid":false,"given":"Franco","family":"Pagani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2022.07.004_bib1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.pneurobio.2016.06.003","article-title":"Familial dysautonomia: history, genotype, phenotype and translational research","volume":"152","author":"Norcliffe-Kaufmann","year":"2017","journal-title":"Prog. Neurobiol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib2","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1111\/j.1399-0004.1987.tb03334.x","article-title":"Incidence of familial dysautonomia in Israel 1977-1981","volume":"32","author":"Maayan","year":"1987","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib3","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1542\/peds.3.4.468","article-title":"Central autonomic dysfunction with defective lacrimation: I. Report of Five Cases","volume":"3","author":"Riley","year":"1949","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2022.07.004_bib4","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/ajmg.10450","article-title":"Familial dysautonomia: detection of the IKBKAP IVS20(+6T--> C) and R696P mutations and frequencies among ashkenazi jews","volume":"110","author":"Dong","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib5","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":"10.1016\/j.ajhg.2022.07.004_bib6","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 (Baltim.)"},{"key":"10.1016\/j.ajhg.2022.07.004_bib7","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1093\/jnen\/nlw118","article-title":"Pathological Confirmation of optic neuropathy in familial dysautonomia","volume":"76","author":"Mendoza-Santiesteban","year":"2017","journal-title":"J.\u00a0Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib8","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.cppeds.2005.12.001","article-title":"Familial dysautonomia: update and recent advances","volume":"36","author":"Gold-von Simson","year":"2006","journal-title":"Curr. Probl. Pediatr. Adolesc. Health Care"},{"key":"10.1016\/j.ajhg.2022.07.004_bib9","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1212\/WNL.0b013e31828f18f0","article-title":"Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa","volume":"80","author":"Norcliffe-Kaufmann","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2022.07.004_bib10","first-page":"724","article-title":"Carbidopa for afferent baroreflex failure in familial dysautonomia: a double-blind randomized crossover clinical trial. Hypertens","volume":"1979","author":"Norcliffe-Kaufmann","year":"2020","journal-title":"Dallas Tex"},{"key":"10.1016\/j.ajhg.2022.07.004_bib11","first-page":"2653","article-title":"Current treatments in familial dysautonomia. Expert opin","volume":"15","author":"Palma","year":"2014","journal-title":"Pharmacother"},{"key":"10.1016\/j.ajhg.2022.07.004_bib12","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":"10.1016\/j.ajhg.2022.07.004_bib13","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":"10.1016\/j.ajhg.2022.07.004_bib14","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng0693-160","article-title":"Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis","volume":"4","author":"Blumenfeld","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib15","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajmg.a.20052","article-title":"Identification of the first non-Jewish mutation in familial Dysautonomia","volume":"118A","author":"Leyne","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib16","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":"10.1016\/j.ajhg.2022.07.004_bib17","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":"10.1016\/j.ajhg.2022.07.004_bib18","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.ygeno.2007.05.012","article-title":"A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect","volume":"90","author":"Hims","year":"2007","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2022.07.004_bib19","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.cell.2008.11.043","article-title":"Elongator controls the migration and differentiation of cortical neurons through acetylation of \u03b1-tubulin","volume":"136","author":"Creppe","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2022.07.004_bib20","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.sbi.2013.02.009","article-title":"Structural insights into Elongator function","volume":"23","author":"Glatt","year":"2013","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib21","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1073\/pnas.251672198","article-title":"Human Elongator facilitates RNA polymerase II transcription through chromatin","volume":"99","author":"Kim","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"10.1016\/j.ajhg.2022.07.004_bib22","doi-asserted-by":"crossref","first-page":"5035","DOI":"10.1073\/pnas.1620212114","article-title":"BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia","volume":"114","author":"Ohlen","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"10.1016\/j.ajhg.2022.07.004_bib23","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S1097-2765(00)80179-3","article-title":"Elongator","volume":"3","author":"Otero","year":"1999","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2022.07.004_bib24","doi-asserted-by":"crossref","first-page":"e1000820","DOI":"10.1371\/journal.pgen.1000820","article-title":"The Caenorhabditis elegans elongator complex regulates neuronal \u03b1-tubulin acetylation","volume":"6","author":"Solinger","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib25","doi-asserted-by":"crossref","first-page":"dmm033746","DOI":"10.1242\/dmm.033746","article-title":"Retina-specific loss of Ikbkap\/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia","volume":"11","author":"Ueki","year":"2018","journal-title":"Dis. Model. Mech"},{"key":"10.1016\/j.ajhg.2022.07.004_bib26","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.molcel.2006.04.017","article-title":"Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia","volume":"22","author":"Close","year":"2006","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2022.07.004_bib27","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.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2022.07.004_bib28","article-title":"Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage","author":"Morini","year":"2021","journal-title":"J.\u00a0Genet. Genomics"},{"key":"10.1016\/j.ajhg.2022.07.004_bib29","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":"10.1016\/j.ajhg.2022.07.004_bib30","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1261\/rna.1184108","article-title":"A genome-wide screen identifies genes required for formation of the wobble nucleoside 5-methoxycarbonylmethyl-2-thiouridine in Saccharomyces cerevisiae","volume":"14","author":"Huang","year":"2008","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2022.07.004_bib31","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.bbrc.2014.10.116","article-title":"Familial dysautonomia (FD) patients have reduced levels of the modified wobble nucleoside mcm5s2U in tRNA","volume":"454","author":"Karlsborn","year":"2014","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2022.07.004_bib32","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/s41467-018-03221-z","article-title":"Elongator and codon bias regulate protein levels in mammalian peripheral neurons","volume":"9","author":"Goffena","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2022.07.004_bib33","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":"10.1016\/j.ajhg.2022.07.004_bib34","doi-asserted-by":"crossref","first-page":"2785","DOI":"10.1093\/hmg\/ddt126","article-title":"Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model","volume":"22","author":"Bochner","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib35","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":"10.1016\/j.ajhg.2022.07.004_bib36","doi-asserted-by":"crossref","first-page":"5078","DOI":"10.1093\/hmg\/dds354","article-title":"IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia","volume":"21","author":"Dietrich","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib37","doi-asserted-by":"crossref","first-page":"18698","DOI":"10.1073\/pnas.1308596110","article-title":"Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons","volume":"110","author":"George","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"10.1016\/j.ajhg.2022.07.004_bib38","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1242\/dev.107797","article-title":"A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation","volume":"141","author":"Jackson","year":"2014","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2022.07.004_bib39","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s10286-017-0438-2","article-title":"Animal and cellular models of familial dysautonomia. Clin. Auton. Res. Off. J","volume":"27","author":"Lefcort","year":"2017","journal-title":"Clin. Auton. Res."},{"key":"10.1016\/j.ajhg.2022.07.004_bib40","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1093\/hmg\/ddv634","article-title":"Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia","volume":"25","author":"Morini","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib41","doi-asserted-by":"crossref","first-page":"4833","DOI":"10.1093\/nar\/gky249","article-title":"Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice","volume":"46","author":"Sinha","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2022.07.004_bib42","doi-asserted-by":"crossref","first-page":"4507","DOI":"10.1038\/s41467-021-24705-5","article-title":"Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia","volume":"12","author":"Ajiro","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2022.07.004_bib43","doi-asserted-by":"crossref","first-page":"3332","DOI":"10.1038\/s41467-021-23663-2","article-title":"A deep learning approach to identify gene targets of a therapeutic for human splicing disorders. Nat","volume":"12","author":"Gao","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2022.07.004_bib44","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1016\/j.ajhg.2019.02.009","article-title":"ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia","volume":"104","author":"Morini","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib45","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1093\/hmg\/ddh046","article-title":"Rescue of a human mRNA splicing defect by the plant cytokinin kinetin","volume":"13","author":"Slaugenhaupt","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib46","doi-asserted-by":"crossref","first-page":"2466","DOI":"10.1093\/hmg\/ddy151","article-title":"Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model","volume":"27","author":"Donadon","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib47","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":"10.1016\/j.ajhg.2022.07.004_bib48","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1203\/PDR.0b013e318194fd52","article-title":"Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing","volume":"65","author":"Gold-von Simson","year":"2009","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ajhg.2022.07.004_bib49","doi-asserted-by":"crossref","first-page":"11168","DOI":"10.1038\/ncomms11168","article-title":"Therapeutic activity of modified U1 core spliceosomal particles","volume":"7","author":"Rogalska","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2022.07.004_bib50","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1002\/humu.22762","article-title":"Exon-specific U1s correct SPINK5 exon 11 skipping caused by a synonymous substitution that affects a bifunctional splicing regulatory element. Hum","volume":"36","author":"Dal Mas","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2022.07.004_bib51","doi-asserted-by":"crossref","first-page":"2389","DOI":"10.1093\/hmg\/dds045","article-title":"An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects","volume":"21","author":"Fernandez Alanis","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib52","doi-asserted-by":"crossref","first-page":"11746","DOI":"10.1038\/srep11746","article-title":"Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches","volume":"5","author":"Nizzardo","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2022.07.004_bib53","doi-asserted-by":"crossref","first-page":"e1006082","DOI":"10.1371\/journal.pgen.1006082","article-title":"Molecular basis and therapeutic strategies to rescue factor IX Variants that affect splicing and protein function","volume":"12","author":"Tajnik","year":"2016","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib54","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/jth.12471","article-title":"An engineered U1 small nuclear RNA rescues splicing-defective coagulation F7 gene expression in mice","volume":"12","author":"Balestra","year":"2014","journal-title":"J.\u00a0Thromb. Haemost."},{"key":"10.1016\/j.ajhg.2022.07.004_bib55","doi-asserted-by":"crossref","first-page":"e370","DOI":"10.1038\/mtna.2016.77","article-title":"An exon-specific U1snRNA induces a robust factor IX activity in mice expressing multiple human FIX splicing mutants","volume":"5","author":"Balestra","year":"2016","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ajhg.2022.07.004_bib56","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ajhg.2014.12.009","article-title":"Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA","volume":"96","author":"Dal Mas","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib57","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1261\/rna.078935.121","article-title":"Alternative splicing regulation of cell-cycle genes by SPF45\/SR140\/CHERP complex controls cell proliferation","volume":"27","author":"Mart\u00edn","year":"2021","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2022.07.004_bib58","doi-asserted-by":"crossref","first-page":"7618","DOI":"10.1093\/nar\/gkz469","article-title":"Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA","volume":"47","author":"Donadon","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2022.07.004_bib59","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/gt.2009.157","article-title":"High AAV vector purity results in serotype- and tissue-independent enhancement of transduction efficiency","volume":"17","author":"Ayuso","year":"2010","journal-title":"Gene Ther."},{"key":"10.1016\/j.ajhg.2022.07.004_bib60","first-page":"53569","article-title":"A battery of motor tests in a neonatal mouse model of cerebral palsy","author":"Feather-Schussler","year":"2016","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2022.07.004_bib61","first-page":"e55523","article-title":"Assessment of Spontaneous Alternation, Novel Object Recognition and Limb Clasping in Transgenic Mouse Models of Amyloid-\u03b2 and Tau Neuropathology","author":"Miedel","year":"2017","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2022.07.004_bib62","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S0165-0270(97)00042-3","article-title":"A low-cost method to analyse footprint patterns","volume":"75","author":"Klapdor","year":"1997","journal-title":"J.\u00a0Neurosci. Methods"},{"key":"10.1016\/j.ajhg.2022.07.004_bib63","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/S0031-9384(98)00343-6","article-title":"Gait analysis in the mouse","volume":"66","author":"Clarke","year":"1999","journal-title":"Physiol. Behav."},{"key":"10.1016\/j.ajhg.2022.07.004_bib64","doi-asserted-by":"crossref","first-page":"8110","DOI":"10.1096\/fj.201802488R","article-title":"Natural disease history of the D2-mdx mouse model for Duchenne muscular dystrophy","volume":"33","author":"van Putten","year":"2019","journal-title":"FASEB J."},{"key":"10.1016\/j.ajhg.2022.07.004_bib65","doi-asserted-by":"crossref","first-page":"87","DOI":"10.4103\/0976-500X.72350","article-title":"Blood sample collection in small laboratory animals","volume":"1","author":"Parasuraman","year":"2010","journal-title":"J.\u00a0Pharmacol. Pharmacother."},{"key":"10.1016\/j.ajhg.2022.07.004_bib66","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1093\/cvr\/cvaa110","article-title":"Towards standardization of echocardiography for the evaluation of left ventricular function in adult rodents: a position paper of the ESC Working Group on Myocardial Function","volume":"117","author":"Zacchigna","year":"2021","journal-title":"Cardiovasc. Res."},{"key":"10.1016\/j.ajhg.2022.07.004_bib67","doi-asserted-by":"crossref","first-page":"11.14.1","DOI":"10.1002\/0471250953.bi1114s51","article-title":"Mapping RNA-seq reads with STAR","volume":"51","author":"Dobin","year":"2015","journal-title":"Curr. Protoc. Bioinform."},{"key":"10.1016\/j.ajhg.2022.07.004_bib68","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib69","doi-asserted-by":"crossref","first-page":"E5593","DOI":"10.1073\/pnas.1419161111","article-title":"rMATS: robust and flexible detection of differential alternative splicing from replicate RNA-Seq data","volume":"111","author":"Shen","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"10.1016\/j.ajhg.2022.07.004_bib70","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1016\/j.cell.2014.11.035","article-title":"A highly conserved program of neuronal microexons is misregulated in autistic brains","volume":"159","author":"Irimia","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2022.07.004_bib71","first-page":"39","article-title":"Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J","volume":"2","author":"Axelrod","year":"2007","journal-title":"Rare Dis."},{"key":"10.1016\/j.ajhg.2022.07.004_bib72","first-page":"1","article-title":"Safety of Adeno-associated virus-based vector-mediated gene therapy\u2014impact of vector dose","author":"Maurya","year":"2022","journal-title":"Cancer Gene Ther."},{"key":"10.1016\/j.ajhg.2022.07.004_bib73","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1089\/hum.2013.233","article-title":"Life-long correction of hyperbilirubinemia with a neonatal liver-specific AAV-mediated gene transfer in a lethal mouse model of Crigler-Najjar Syndrome. Hum","volume":"25","author":"Bortolussi","year":"2014","journal-title":"Gene Ther."},{"key":"10.1016\/j.ajhg.2022.07.004_bib74","series-title":"In What\u2019s Wrong With My Mouse?","first-page":"42","year":"2007"},{"key":"10.1016\/j.ajhg.2022.07.004_bib75","series-title":"In What\u2019s Wrong with My mouse?","first-page":"62","year":"2007"},{"key":"10.1016\/j.ajhg.2022.07.004_bib76","doi-asserted-by":"crossref","first-page":"5336","DOI":"10.1111\/bph.15021","article-title":"Myocardial ischaemia reperfusion injury and cardioprotection in the presence of sensory neuropathy: therapeutic options","volume":"177","author":"Bencsik","year":"2020","journal-title":"Br. J. Pharmacol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib77","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1002\/ppul.21600","article-title":"Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia","volume":"47","author":"Carroll","year":"2012","journal-title":"Pediatr. Pulmonol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib78","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1212\/WNL.0b013e3181feb283","article-title":"Afferent baroreflex failure in familial dysautonomia","volume":"75","author":"Norcliffe-Kaufmann","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2022.07.004_bib79","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/jhh.2011.107","article-title":"Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome","volume":"27","author":"Norcliffe-Kaufmann","year":"2013","journal-title":"J.\u00a0Hum. Hypertens."},{"key":"10.1016\/j.ajhg.2022.07.004_bib80","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s10286-008-0464-1","article-title":"Cardiac sympathetic hypo-innervation in familial dysautonomia. Clin. Auton. Res. Off. J","volume":"18","author":"Goldstein","year":"2008","journal-title":"Clin. Auton. Res."},{"key":"10.1016\/j.ajhg.2022.07.004_bib81","first-page":"57764","article-title":"Assessment of kidney function in mouse models of Glomerular disease","author":"Stevens","year":"2018","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2022.07.004_bib82","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/d41573-021-00017-7","article-title":"The clinical landscape for AAV gene therapies","volume":"20","author":"Kuzmin","year":"2021","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.ajhg.2022.07.004_bib83","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1038\/s41593-021-00827-3","article-title":"Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit","volume":"24","author":"Van Alstyne","year":"2021","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2022.07.004_bib84","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1089\/hum.2020.167","article-title":"Adeno-associated virus-induced dorsal root ganglion pathology. Hum","volume":"31","author":"Hordeaux","year":"2020","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.ajhg.2022.07.004_bib85","doi-asserted-by":"crossref","first-page":"aeba9188","DOI":"10.1126\/scitranslmed.aba9188","article-title":"MicroRNA-mediated inhibition of transgene expression reduces dorsal root ganglion toxicity by AAV vectors in primates","volume":"12","author":"Hordeaux","year":"2020","journal-title":"Sci. Transl. Med"},{"key":"10.1016\/j.ajhg.2022.07.004_bib86","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1001\/archopht.1956.00930040727011","article-title":"Ocular manifestations of Riley-Day syndrome; familial autonomic dysfunction","volume":"56","author":"Liebman","year":"1956","journal-title":"AMA. Arch. Ophthalmol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib87","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.\u00a0Neuro-ophthalmol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib88","first-page":"702","article-title":"Selective retinal ganglion cell loss in familial dysautonomia","volume":"261","author":"Mendoza-Santiesteban","year":"2014","journal-title":"J.\u00a0Neurol."},{"key":"10.1016\/j.ajhg.2022.07.004_bib89","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1093\/hmg\/ddab359","article-title":"Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia","volume":"31","author":"Chekuri","year":"2022","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2022.07.004_bib90","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/j.molmed.2018.06.006","article-title":"Seeing the light after 25 Years of retinal gene therapy","volume":"24","author":"Trapani","year":"2018","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.ajhg.2022.07.004_bib91","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1182\/blood-2013-01-306647","article-title":"Immune responses to AAV vectors: overcoming barriers to successful gene therapy","volume":"122","author":"Mingozzi","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2022.07.004_bib92","doi-asserted-by":"crossref","first-page":"102","DOI":"10.3390\/v11020102","article-title":"Adeno-associated virus (AAV) versus immune response","volume":"11","author":"Rabinowitz","year":"2019","journal-title":"Viruses"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929722003081?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929722003081?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T17:16:21Z","timestamp":1717521381000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929722003081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8]]},"references-count":92,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["S0002929722003081"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2022.07.004","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2022,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2022.07.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}