{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:08:04Z","timestamp":1790795284731,"version":"4.1.0"},"reference-count":176,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T00:00:00Z","timestamp":1721001600000},"content-version":"vor","delay-in-days":196,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"US National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS115834"],"award-info":[{"award-number":["R01NS115834"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spinal Cord Injury\/Disease Research Program"},{"name":"Missouri University"},{"DOI":"10.13039\/501100005010","name":"Italian Association for Cancer Research","doi-asserted-by":"publisher","award":["IG 23710"],"award-info":[{"award-number":["IG 23710"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Italian Association for Cancer Research","doi-asserted-by":"publisher","award":["R01NS115834"],"award-info":[{"award-number":["R01NS115834"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Senataxin is an RNA:DNA helicase that plays an important role in the resolution of RNA:DNA hybrids (R-loops) formed during transcription. R-loops are involved in the regulation of biological processes such as immunoglobulin class switching, gene expression and DNA repair. Excessive accumulation of R-loops results in DNA damage and loss of genomic integrity. Senataxin is critical for maintaining optimal levels of R-loops to prevent DNA damage and acts as a genome guardian. Within the nucleus, senataxin interacts with various RNA processing factors and DNA damage response and repair proteins. Senataxin interactors include survival motor neuron and zinc finger protein 1, with whom it co-localizes in sub-nuclear bodies. Despite its ubiquitous expression, mutations in senataxin specifically affect neurons and result in distinct neurodegenerative diseases such as amyotrophic lateral sclerosis type 4 and ataxia with oculomotor apraxia type 2, which are attributed to the gain-of-function and the loss-of-function mutations in senataxin, respectively. In addition, low levels of senataxin (loss-of-function) in spinal muscular atrophy result in the accumulation of R-loops causing DNA damage and motor neuron degeneration. Senataxin may play multiple functions in diverse cellular processes; however, its emerging role in R-loop resolution and maintenance of genomic integrity is gaining attention in the field of neurodegenerative diseases. In this review, we highlight the role of senataxin in R-loop resolution and its potential as a therapeutic target to treat neurodegenerative diseases.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae239","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T18:14:36Z","timestamp":1721067276000},"source":"Crossref","is-referenced-by-count":14,"title":["Role of senataxin in R-loop-mediated neurodegeneration"],"prefix":"10.1093","volume":"6","author":[{"given":"Annapoorna","family":"Kannan","sequence":"first","affiliation":[{"name":"Center for Human Genetics, University of Oxford , Oxford OX3 7BN , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shyni","family":"Gangadharan Leela","sequence":"additional","affiliation":[{"name":"Bond Life Sciences Center, University of Missouri , Columbia, MO 65211 , USA"},{"name":"Department of Veterinary Pathobiology, University of Missouri , Columbia, MO 65211 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Branzei","sequence":"additional","affiliation":[{"name":"The AIRC Institute of Molecular Oncology Foundation, IFOM ETS , Milan 20139 , Italy"},{"name":"Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche (IGM-CNR) , Pavia 27100 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8575-9937","authenticated-orcid":false,"given":"Laxman","family":"Gangwani","sequence":"additional","affiliation":[{"name":"Bond Life Sciences Center, University of Missouri , Columbia, MO 65211 , USA"},{"name":"Department of Veterinary Pathobiology, University of Missouri , Columbia, MO 65211 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,7,15]]},"reference":[{"issue":"7","key":"2024072617063960800_fcae239-B1","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1073\/pnas.73.7.2294","article-title":"Hybridization of RNA to double-stranded DNA: Formation of R-loops","volume":"73","author":"Thomas","year":"1976","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5087","key":"2024072617063960800_fcae239-B2","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1126\/science.1279808","article-title":"Stability and properties of double and triple helices: Dramatic effects of RNA or DNA backbone composition","volume":"258","author":"Roberts","year":"1992","journal-title":"Science"},{"issue":"7","key":"2024072617063960800_fcae239-B3","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1016\/j.biochi.2008.04.011","article-title":"Recognition of the unique structure of DNA:RNA hybrids","volume":"90","author":"Shaw","year":"2008","journal-title":"Biochimie"},{"issue":"17","key":"2024072617063960800_fcae239-B4","doi-asserted-by":"crossref","first-page":"3516","DOI":"10.1093\/nar\/23.17.3516","article-title":"R-loop stability as a function of RNA structure and size","volume":"23","author":"Landgraf","year":"1995","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"2024072617063960800_fcae239-B5","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.molcel.2018.04.001","article-title":"RNA helicase DDX1 converts RNA G-quadruplex structures into R-loops to promote IgH class switch recombination","volume":"70","author":"Ribeiro de Almeida","year":"2018","journal-title":"Mol Cell"},{"issue":"5396","key":"2024072617063960800_fcae239-B6","doi-asserted-by":"crossref","first-page":"2012","DOI":"10.1126\/science.282.5396.2012","article-title":"Genome sequence of the nematode C. elegans: A platform for investigating biology","volume":"282","author":"C. elegans Sequencing Consortium","year":"1998","journal-title":"Science"},{"issue":"2","key":"2024072617063960800_fcae239-B7","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.molcel.2012.04.009","article-title":"R loops: From transcription byproducts to threats to genome stability","volume":"46","author":"Aguilera","year":"2012","journal-title":"Mol Cell"},{"issue":"3","key":"2024072617063960800_fcae239-B8","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.molcel.2019.01.024","article-title":"R-Loops as cellular regulators and genomic threats","volume":"73","author":"Crossley","year":"2019","journal-title":"Mol Cell"},{"issue":"7925","key":"2024072617063960800_fcae239-B9","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1038\/s41586-022-05114-0","article-title":"R-loop formation and conformational activation mechanisms of Cas9","volume":"609","author":"Pacesa","year":"2022","journal-title":"Nature"},{"key":"2024072617063960800_fcae239-B10","doi-asserted-by":"crossref","first-page":"14015","DOI":"10.1038\/ncomms14015","article-title":"Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids","volume":"8","author":"Sagie","year":"2017","journal-title":"Nat Commun"},{"issue":"10","key":"2024072617063960800_fcae239-B11","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1101\/gr.158436.113","article-title":"GC skew at the 5\u2019 and 3\u2019 ends of human genes links R-loop formation to epigenetic regulation and transcription termination","volume":"23","author":"Ginno","year":"2013","journal-title":"Genome Res"},{"issue":"6","key":"2024072617063960800_fcae239-B12","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1016\/j.molcel.2012.01.017","article-title":"R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters","volume":"45","author":"Ginno","year":"2012","journal-title":"Mol Cell"},{"issue":"1","key":"2024072617063960800_fcae239-B13","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.molcel.2016.05.032","article-title":"Prevalent, dynamic, and conserved R-loop structures associate with specific epigenomic signatures in mammals","volume":"63","author":"Sanz","year":"2016","journal-title":"Mol Cell"},{"issue":"7531","key":"2024072617063960800_fcae239-B14","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/nature13787","article-title":"R-loops induce repressive chromatin marks over mammalian gene terminators","volume":"516","author":"Skourti-Stathaki","year":"2014","journal-title":"Nature"},{"issue":"13","key":"2024072617063960800_fcae239-B15","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1101\/gad.242990.114","article-title":"A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression","volume":"28","author":"Skourti-Stathaki","year":"2014","journal-title":"Genes Dev"},{"issue":"4","key":"2024072617063960800_fcae239-B16","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.molcel.2017.10.008","article-title":"R-ChIP using inactive RNase H reveals dynamic coupling of R-loops with transcriptional pausing at gene promoters","volume":"68","author":"Chen","year":"2017","journal-title":"Mol Cell"},{"issue":"9","key":"2024072617063960800_fcae239-B17","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/s41477-017-0004-x","article-title":"The R-loop is a common chromatin feature of the Arabidopsis genome","volume":"3","author":"Xu","year":"2017","journal-title":"Nat Plants"},{"issue":"3","key":"2024072617063960800_fcae239-B18","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.jmb.2017.12.016","article-title":"The affinity of the S9.6 antibody for double-stranded RNAs impacts the accurate mapping of R-loops in fission yeast","volume":"430","author":"Hartono","year":"2018","journal-title":"J Mol Biol"},{"issue":"3","key":"2024072617063960800_fcae239-B19","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.molcel.2003.08.010","article-title":"Cotranscriptionally formed DNA:RNA hybrids mediate transcription elongation impairment and transcription-associated recombination","volume":"12","author":"Huertas","year":"2003","journal-title":"Mol Cell"},{"issue":"3","key":"2024072617063960800_fcae239-B20","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.cell.2005.06.008","article-title":"Inactivation of the SR protein splicing factor ASF\/SF2 results in genomic instability","volume":"122","author":"Li","year":"2005","journal-title":"Cell"},{"issue":"6","key":"2024072617063960800_fcae239-B21","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1016\/j.molcel.2011.10.017","article-title":"RNase H and multiple RNA biogenesis factors cooperate to prevent RNA:DNA hybrids from generating genome instability","volume":"44","author":"Wahba","year":"2011","journal-title":"Mol Cell"},{"issue":"1","key":"2024072617063960800_fcae239-B22","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.molcel.2010.12.007","article-title":"Yeast Sen1 helicase protects the genome from transcription-associated instability","volume":"41","author":"Mischo","year":"2011","journal-title":"Mol Cell"},{"issue":"6","key":"2024072617063960800_fcae239-B23","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1016\/j.molcel.2011.04.026","article-title":"Human senataxin resolves RNA\/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination","volume":"42","author":"Skourti-Stathaki","year":"2011","journal-title":"Mol Cell"},{"issue":"6","key":"2024072617063960800_fcae239-B24","doi-asserted-by":"crossref","first-page":"2818","DOI":"10.1093\/nar\/gkad092","article-title":"Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor","volume":"51","author":"Hasanova","year":"2023","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"2024072617063960800_fcae239-B25","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.molcel.2014.10.020","article-title":"Transcription-coupled nucleotide excision repair factors promote R-loop-induced genome instability","volume":"56","author":"Sollier","year":"2014","journal-title":"Mol Cell"},{"issue":"15","key":"2024072617063960800_fcae239-B26","doi-asserted-by":"crossref","first-page":"e100986","DOI":"10.15252\/embj.2018100986","article-title":"Arginine methylation of the DDX5 helicase RGG\/RG motif by PRMT5 regulates resolution of RNA:DNA hybrids","volume":"38","author":"Mersaoui","year":"2019","journal-title":"EMBO J"},{"issue":"5","key":"2024072617063960800_fcae239-B27","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/j.cell.2014.03.048","article-title":"RECQL5 controls transcript elongation and suppresses genome instability associated with transcription stress","volume":"157","author":"Saponaro","year":"2014","journal-title":"Cell"},{"key":"2024072617063960800_fcae239-B28","doi-asserted-by":"crossref","first-page":"15025","DOI":"10.1038\/ncomms15025","article-title":"PIF1 family DNA helicases suppress R-loop mediated genome instability at tRNA genes","volume":"8","author":"Tran","year":"2017","journal-title":"Nat Commun"},{"issue":"12","key":"2024072617063960800_fcae239-B29","doi-asserted-by":"crossref","first-page":"3991","DOI":"10.1083\/jcb.201703168","article-title":"RECQ-like helicases Sgs1 and BLM regulate R-loop-associated genome instability","volume":"216","author":"Chang","year":"2017","journal-title":"J Cell Biol"},{"issue":"26","key":"2024072617063960800_fcae239-B30","doi-asserted-by":"crossref","first-page":"17766","DOI":"10.1074\/jbc.M709749200","article-title":"The human RecQ helicases, BLM and RECQ1, display distinct DNA substrate specificities","volume":"283","author":"Popuri","year":"2008","journal-title":"J Biol Chem"},{"issue":"3","key":"2024072617063960800_fcae239-B31","doi-asserted-by":"crossref","first-page":"111089","DOI":"10.1016\/j.celrep.2022.111089","article-title":"DDX18 prevents R-loop-induced DNA damage and genome instability via PARP-1","volume":"40","author":"Lin","year":"2022","journal-title":"Cell Rep"},{"issue":"11","key":"2024072617063960800_fcae239-B32","doi-asserted-by":"crossref","first-page":"e1005674","DOI":"10.1371\/journal.pgen.1005674","article-title":"The Fanconi anemia pathway protects genome integrity from R-loops","volume":"11","author":"Garc\u00eda-Rubio","year":"2015","journal-title":"PLoS Genet"},{"issue":"3","key":"2024072617063960800_fcae239-B33","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.molcel.2015.09.012","article-title":"The Fanconi anemia pathway maintains genome stability by coordinating replication and transcription","volume":"60","author":"Schwab","year":"2015","journal-title":"Mol Cell"},{"issue":"12","key":"2024072617063960800_fcae239-B34","doi-asserted-by":"crossref","first-page":"e1007136","DOI":"10.1371\/journal.pgen.1007136","article-title":"The Smc5\/6 complex regulates the yeast Mph1 helicase at RNA-DNA hybrid-mediated DNA damage","volume":"13","author":"Lafuente-Barquero","year":"2017","journal-title":"PLoS Genet"},{"issue":"6","key":"2024072617063960800_fcae239-B35","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1016\/j.celrep.2018.04.025","article-title":"RNA\/DNA hybrid interactome identifies DXH9 as a molecular player in transcriptional termination and R-loop-associated DNA damage","volume":"23","author":"Cristini","year":"2018","journal-title":"Cell Rep"},{"issue":"6","key":"2024072617063960800_fcae239-B36","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.dnarep.2011.04.013","article-title":"Human DHX9 helicase preferentially unwinds RNA-containing displacement loops (R-loops) and G-quadruplexes","volume":"10","author":"Chakraborty","year":"2011","journal-title":"DNA Repair (Amst)"},{"issue":"22","key":"2024072617063960800_fcae239-B37","doi-asserted-by":"crossref","first-page":"2794","DOI":"10.1128\/MCB.00415-16","article-title":"DEAD box 1 facilitates removal of RNA and homologous recombination at DNA double-strand breaks","volume":"36","author":"Li","year":"2016","journal-title":"Mol Cell Biol"},{"issue":"5","key":"2024072617063960800_fcae239-B38","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1080\/19491034.2017.1348448","article-title":"Ddx19 links mRNA nuclear export with progression of transcription and replication and suppresses genomic instability upon DNA damage in proliferating cells","volume":"8","author":"Hodroj","year":"2017","journal-title":"Nucleus"},{"issue":"2","key":"2024072617063960800_fcae239-B39","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.celrep.2016.12.050","article-title":"Transcription dynamics prevent RNA-mediated genomic instability through SRPK2-dependent DDX23 phosphorylation","volume":"18","author":"Sridhara","year":"2017","journal-title":"Cell Rep"},{"issue":"8","key":"2024072617063960800_fcae239-B40","doi-asserted-by":"crossref","first-page":"3526","DOI":"10.1073\/pnas.92.8.3526","article-title":"Overexpression of RNase H partially complements the growth defect of an Escherichia coli delta topA mutant: R-loop formation is a major problem in the absence of DNA topoisomerase I","volume":"92","author":"Drolet","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"11","key":"2024072617063960800_fcae239-B41","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1038\/ncb1984","article-title":"Topoisomerase I suppresses genomic instability by preventing interference between replication and transcription","volume":"11","author":"Tuduri","year":"2009","journal-title":"Nat Cell Biol"},{"issue":"3","key":"2024072617063960800_fcae239-B42","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.molcel.2014.01.011","article-title":"Arginine methylation facilitates the recruitment of TOP3B to chromatin to prevent R loop accumulation","volume":"53","author":"Yang","year":"2014","journal-title":"Mol Cell"},{"issue":"2","key":"2024072617063960800_fcae239-B43","doi-asserted-by":"crossref","first-page":"111067","DOI":"10.1016\/j.celrep.2022.111067","article-title":"Resolution of R-loops by topoisomerase III-\u03b2 (TOP3B) in coordination with the DEAD-box helicase DDX5","volume":"40","author":"Saha","year":"2022","journal-title":"Cell Rep"},{"issue":"2","key":"2024072617063960800_fcae239-B44","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1101\/gad.179721.111","article-title":"R-loop-mediated genome instability in mRNA cleavage and polyadenylation mutants","volume":"26","author":"Stirling","year":"2012","journal-title":"Genes Dev"},{"issue":"14","key":"2024072617063960800_fcae239-B45","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1101\/gad.1438306","article-title":"Cotranscriptional processes and their influence on genome stability","volume":"20","author":"Li","year":"2006","journal-title":"Genes Dev"},{"issue":"6","key":"2024072617063960800_fcae239-B46","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.tig.2014.03.005","article-title":"Mechanisms of genome instability induced by RNA-processing defects","volume":"30","author":"Chan","year":"2014","journal-title":"Trends Genet"},{"key":"2024072617063960800_fcae239-B47","doi-asserted-by":"crossref","first-page":"166","DOI":"10.3389\/fgene.2015.00166","article-title":"Replication and transcription on a collision course: Eukaryotic regulation mechanisms and implications for DNA stability","volume":"6","author":"Brambati","year":"2015","journal-title":"Front Genet"},{"issue":"6","key":"2024072617063960800_fcae239-B48","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1016\/j.molcel.2011.10.013","article-title":"Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes","volume":"44","author":"Helmrich","year":"2011","journal-title":"Mol Cell"},{"issue":"6174","key":"2024072617063960800_fcae239-B49","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1126\/science.1245831","article-title":"Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome","volume":"343","author":"Colak","year":"2014","journal-title":"Science"},{"issue":"5","key":"2024072617063960800_fcae239-B50","doi-asserted-by":"crossref","first-page":"e1004318","DOI":"10.1371\/journal.pgen.1004318","article-title":"R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome","volume":"10","author":"Groh","year":"2014","journal-title":"PLoS Genet"},{"issue":"10","key":"2024072617063960800_fcae239-B51","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/nrg1689","article-title":"Repeat instability: Mechanisms of dynamic mutations","volume":"6","author":"Pearson","year":"2005","journal-title":"Nat Rev Genet"},{"issue":"3","key":"2024072617063960800_fcae239-B52","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/nrm2854","article-title":"Repeat instability as the basis for human diseases and as a potential target for therapy","volume":"11","author":"L\u00f3pez Castel","year":"2010","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"16","key":"2024072617063960800_fcae239-B53","doi-asserted-by":"crossref","first-page":"5351","DOI":"10.1093\/nar\/gkm589","article-title":"A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro","volume":"35","author":"Grabczyk","year":"2007","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"2024072617063960800_fcae239-B54","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1073\/pnas.0909740107","article-title":"R loops stimulate genetic instability of CTG.CAG repeats","volume":"107","author":"Lin","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"2024072617063960800_fcae239-B55","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1093\/nar\/gkq935","article-title":"Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats","volume":"39","author":"Reddy","year":"2011","journal-title":"Nucleic Acids Res"},{"issue":"7491","key":"2024072617063960800_fcae239-B56","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/nature13124","article-title":"C9orf72 nucleotide repeat structures initiate molecular cascades of disease","volume":"507","author":"Haeusler","year":"2014","journal-title":"Nature"},{"issue":"4","key":"2024072617063960800_fcae239-B57","doi-asserted-by":"crossref","first-page":"e1003435","DOI":"10.1371\/journal.pgen.1003435","article-title":"Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing","volume":"9","author":"Becherel","year":"2013","journal-title":"PLoS Genet"},{"issue":"3","key":"2024072617063960800_fcae239-B58","doi-asserted-by":"crossref","first-page":"e90219","DOI":"10.1371\/journal.pone.0090219","article-title":"R-loops in proliferating cells but not in the brain: Implications for AOA2 and other autosomal recessive ataxias","volume":"9","author":"Yeo","year":"2014","journal-title":"PLoS One"},{"issue":"20","key":"2024072617063960800_fcae239-B59","doi-asserted-by":"crossref","first-page":"5759","DOI":"10.1093\/hmg\/ddv296","article-title":"A new model to study neurodegeneration in ataxia oculomotor apraxia type 2","volume":"24","author":"Becherel","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2024072617063960800_fcae239-B60","doi-asserted-by":"crossref","first-page":"826608","DOI":"10.3389\/fncel.2022.826608","article-title":"R-loop mediated DNA damage and impaired DNA repair in spinal muscular atrophy","volume":"16","author":"Cuartas","year":"2022","journal-title":"Front Cell Neurosci"},{"issue":"16","key":"2024072617063960800_fcae239-B61","doi-asserted-by":"crossref","first-page":"8326","DOI":"10.1093\/nar\/gky641","article-title":"Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy","volume":"46","author":"Kannan","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2024072617063960800_fcae239-B62","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1093\/brain\/awz373","article-title":"ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy","volume":"143","author":"Kannan","year":"2020","journal-title":"Brain"},{"issue":"12","key":"2024072617063960800_fcae239-B63","doi-asserted-by":"crossref","first-page":"e1009260","DOI":"10.1371\/journal.pgen.1009260","article-title":"TDP-43 mutations link amyotrophic lateral sclerosis with R-loop homeostasis and R loop-mediated DNA damage","volume":"16","author":"Giannini","year":"2020","journal-title":"PLoS Genet"},{"issue":"3","key":"2024072617063960800_fcae239-B64","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ng1303","article-title":"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2","volume":"36","author":"Moreira","year":"2004","journal-title":"Nat Genet"},{"issue":"6","key":"2024072617063960800_fcae239-B65","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1086\/421054","article-title":"DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)","volume":"74","author":"Chen","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"103","key":"2024072617063960800_fcae239-B66","first-page":"127","article-title":"Unwinding the role of senataxin in neurodegeneration","volume":"19","author":"Bennett","year":"2015","journal-title":"Discov Med"},{"issue":"1","key":"2024072617063960800_fcae239-B67","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nbd.2006.02.007","article-title":"Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease","volume":"23","author":"Chen","year":"2006","journal-title":"Neurobiol Dis"},{"issue":"7942","key":"2024072617063960800_fcae239-B68","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1038\/s41586-022-05545-9","article-title":"R-loop-derived cytoplasmic RNA-DNA hybrids activate an immune response","volume":"613","author":"Crossley","year":"2023","journal-title":"Nature"},{"issue":"18","key":"2024072617063960800_fcae239-B69","doi-asserted-by":"crossref","first-page":"3384","DOI":"10.1093\/hmg\/ddp278","article-title":"Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation","volume":"18","author":"Suraweera","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"6094","key":"2024072617063960800_fcae239-B70","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1126\/science.1221592","article-title":"Feedback regulation of transcriptional termination by the mammalian circadian clock PERIOD complex","volume":"337","author":"Padmanabhan","year":"2012","journal-title":"Science"},{"issue":"18","key":"2024072617063960800_fcae239-B71","doi-asserted-by":"crossref","first-page":"4758","DOI":"10.1093\/hmg\/ddu190","article-title":"Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2","volume":"23","author":"Fogel","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"11","key":"2024072617063960800_fcae239-B72","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.15252\/embj.201696174","article-title":"Sen1 has unique structural features grafted on the architecture of the Upf1-like helicase family","volume":"36","author":"Leonait\u0117","year":"2017","journal-title":"EMBO J"},{"issue":"20","key":"2024072617063960800_fcae239-B73","doi-asserted-by":"crossref","first-page":"3692","DOI":"10.1016\/j.molcel.2023.09.024","article-title":"Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2","volume":"83","author":"Appel","year":"2023","journal-title":"Mol Cell"},{"issue":"8","key":"2024072617063960800_fcae239-B74","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1093\/nar\/gkh561","article-title":"Multiple protein\/protein and protein\/RNA interactions suggest roles for yeast DNA\/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing","volume":"32","author":"Ursic","year":"2004","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"2024072617063960800_fcae239-B75","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1128\/MCB.01195-12","article-title":"Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response","volume":"33","author":"Y\u00fcce","year":"2013","journal-title":"Mol Cell Biol"},{"issue":"23","key":"2024072617063960800_fcae239-B76","doi-asserted-by":"crossref","first-page":"4778","DOI":"10.1093\/nar\/25.23.4778","article-title":"The yeast SEN1 gene is required for the processing of diverse RNA classes","volume":"25","author":"Ursic","year":"1997","journal-title":"Nucleic Acids Res"},{"issue":"7584","key":"2024072617063960800_fcae239-B77","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1038\/nature16469","article-title":"SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination","volume":"529","author":"Zhao","year":"2016","journal-title":"Nature"},{"issue":"8","key":"2024072617063960800_fcae239-B78","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1101\/gad.463408","article-title":"Budding yeast RNA polymerases I and II employ parallel mechanisms of transcriptional termination","volume":"22","author":"Kawauchi","year":"2008","journal-title":"Genes Dev"},{"issue":"6853","key":"2024072617063960800_fcae239-B79","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/35095090","article-title":"RNA-binding protein Nrd1 directs poly(A)-independent 3'-end formation of RNA polymerase II transcripts","volume":"413","author":"Steinmetz","year":"2001","journal-title":"Nature"},{"issue":"5","key":"2024072617063960800_fcae239-B80","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.molcel.2006.10.023","article-title":"Genome-wide distribution of yeast RNA polymerase II and its control by Sen1 helicase","volume":"24","author":"Steinmetz","year":"2006","journal-title":"Mol Cell"},{"issue":"7","key":"2024072617063960800_fcae239-B81","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1038\/nsmb.2592","article-title":"A bacterial-like mechanism for transcription termination by the Sen1p helicase in budding yeast","volume":"20","author":"Porrua","year":"2013","journal-title":"Nat Struct Mol Biol"},{"issue":"6","key":"2024072617063960800_fcae239-B82","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/j.molcel.2006.07.029","article-title":"Transcription termination and nuclear degradation of cryptic unstable transcripts: A role for the nrd1-nab3 pathway in genome surveillance","volume":"23","author":"Thiebaut","year":"2006","journal-title":"Mol Cell"},{"issue":"3","key":"2024072617063960800_fcae239-B83","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.molcel.2014.05.031","article-title":"Molecular basis for coordinating transcription termination with noncoding RNA degradation","volume":"55","author":"Tudek","year":"2014","journal-title":"Mol Cell"},{"issue":"8","key":"2024072617063960800_fcae239-B84","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1038\/nsmb.1460","article-title":"Phosphorylation of the RNA polymerase II C-terminal domain dictates transcription termination choice","volume":"15","author":"Gudipati","year":"2008","journal-title":"Nat Struct Mol Biol"},{"issue":"38","key":"2024072617063960800_fcae239-B85","doi-asserted-by":"crossref","first-page":"22880","DOI":"10.1074\/jbc.M115.674002","article-title":"Saccharomyces cerevisiae Sen1 helicase domain exhibits 5'- to 3'-helicase activity with a preference for translocation on DNA rather than RNA","volume":"290","author":"Martin-Tumasz","year":"2015","journal-title":"J Biol Chem"},{"issue":"3","key":"2024072617063960800_fcae239-B86","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1093\/nar\/gkw1230","article-title":"Biochemical characterization of the helicase Sen1 provides new insights into the mechanisms of non-coding transcription termination","volume":"45","author":"Han","year":"2017","journal-title":"Nucleic Acids Res"},{"issue":"21","key":"2024072617063960800_fcae239-B87","doi-asserted-by":"crossref","first-page":"3181","DOI":"10.1016\/j.jmb.2016.10.021","article-title":"Senataxin: Genome guardian at the interface of transcription and neurodegeneration","volume":"429","author":"Groh","year":"2017","journal-title":"J Mol Biol"},{"issue":"9","key":"2024072617063960800_fcae239-B88","doi-asserted-by":"crossref","first-page":"3072","DOI":"10.1093\/brain\/awab464","article-title":"Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4","volume":"145","author":"Kannan","year":"2022","journal-title":"Brain"},{"issue":"4","key":"2024072617063960800_fcae239-B89","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.molcel.2015.01.011","article-title":"BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair","volume":"57","author":"Hatchi","year":"2015","journal-title":"Mol Cell"},{"issue":"1","key":"2024072617063960800_fcae239-B90","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/s41467-018-02894-w","article-title":"Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations","volume":"9","author":"Cohen","year":"2018","journal-title":"Nat Commun"},{"issue":"5","key":"2024072617063960800_fcae239-B91","doi-asserted-by":"crossref","first-page":"107603","DOI":"10.1016\/j.celrep.2020.107603","article-title":"Senataxin ortholog Sen1 limits DNA:RNA hybrid accumulation at DNA double-strand breaks to control end resection and repair fidelity","volume":"31","author":"Rawal","year":"2020","journal-title":"Cell Rep"},{"issue":"44","key":"2024072617063960800_fcae239-B92","doi-asserted-by":"crossref","first-page":"14697","DOI":"10.1021\/bi991470c","article-title":"The sen1(+) gene of Schizosaccharomyces pombe, a homologue of budding yeast SEN1, encodes an RNA and DNA helicase","volume":"38","author":"Kim","year":"1999","journal-title":"Biochemistry"},{"key":"2024072617063960800_fcae239-B93","doi-asserted-by":"crossref","first-page":"e25230","DOI":"10.4161\/rdis.25230","article-title":"Senataxin protects the genome: Implications for neurodegeneration and other abnormalities","volume":"1","author":"Lavin","year":"2013","journal-title":"Rare Dis"},{"issue":"4","key":"2024072617063960800_fcae239-B94","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1016\/j.cell.2012.09.041","article-title":"Senataxin associates with replication forks to protect fork integrity across RNA-polymerase-II-transcribed genes","volume":"151","author":"Alzu","year":"2012","journal-title":"Cell"},{"issue":"5292","key":"2024072617063960800_fcae239-B95","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1126\/science.274.5292.1511","article-title":"Essential yeast protein with unexpected similarity to subunits of mammalian cleavage and polyadenylation specificity factor (CPSF)","volume":"274","author":"Chanfreau","year":"1996","journal-title":"Science"},{"issue":"5292","key":"2024072617063960800_fcae239-B96","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1126\/science.274.5292.1514","article-title":"Sequence similarity between the 73-kilodalton protein of mammalian CPSF and a subunit of yeast polyadenylation factor I","volume":"274","author":"Jenny","year":"1996","journal-title":"Science"},{"issue":"7","key":"2024072617063960800_fcae239-B97","doi-asserted-by":"crossref","first-page":"e6193","DOI":"10.1371\/journal.pone.0006193","article-title":"A novel tandem reporter quantifies RNA polymerase II termination in mammalian cells","volume":"4","author":"Banerjee","year":"2009","journal-title":"PLoS One"},{"issue":"6","key":"2024072617063960800_fcae239-B98","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1016\/j.cell.2012.08.004","article-title":"Microprocessor, Setx, Xrn2, and Rrp6 co-operate to induce premature termination of transcription by RNAPII","volume":"150","author":"Wagschal","year":"2012","journal-title":"Cell"},{"issue":"5","key":"2024072617063960800_fcae239-B99","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.molcel.2007.12.031","article-title":"The Glc7 phosphatase subunit of the cleavage and polyadenylation factor is essential for transcription termination on snoRNA genes","volume":"29","author":"Nedea","year":"2008","journal-title":"Mol Cell"},{"issue":"2","key":"2024072617063960800_fcae239-B100","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1534\/genetics.114.167585","article-title":"Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia","volume":"198","author":"Chen","year":"2014","journal-title":"Genetics"},{"issue":"2","key":"2024072617063960800_fcae239-B101","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.molcel.2005.11.028","article-title":"Nrd1 interacts with the nuclear exosome for 3\u2019 processing of RNA polymerase II transcripts","volume":"21","author":"Vasiljeva","year":"2006","journal-title":"Mol Cell"},{"issue":"5","key":"2024072617063960800_fcae239-B102","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.cell.2005.04.029","article-title":"RNA degradation by the exosome is promoted by a nuclear polyadenylation complex","volume":"121","author":"LaCava","year":"2005","journal-title":"Cell"},{"issue":"6","key":"2024072617063960800_fcae239-B103","doi-asserted-by":"crossref","first-page":"e189","DOI":"10.1371\/journal.pbio.0030189","article-title":"A new yeast poly(A) polymerase complex involved in RNA quality control","volume":"3","author":"Vanacova","year":"2005","journal-title":"PLoS Biol"},{"issue":"5","key":"2024072617063960800_fcae239-B104","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.cell.2005.04.030","article-title":"Cryptic pol II transcripts are degraded by a nuclear quality control pathway involving a new poly(A) polymerase","volume":"121","author":"Wyers","year":"2005","journal-title":"Cell"},{"issue":"25","key":"2024072617063960800_fcae239-B105","doi-asserted-by":"crossref","first-page":"13229","DOI":"10.1074\/jbc.M116.715771","article-title":"Exosome cofactors connect transcription termination to RNA processing by guiding terminated transcripts to the appropriate exonuclease within the nuclear exosome","volume":"291","author":"Kim","year":"2016","journal-title":"J Biol Chem"},{"issue":"1","key":"2024072617063960800_fcae239-B106","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.molcel.2012.10.014","article-title":"Kinetic competition between RNA polymerase II and Sen1-dependent transcription termination","volume":"49","author":"Hazelbaker","year":"2013","journal-title":"Mol Cell"},{"issue":"12","key":"2024072617063960800_fcae239-B107","doi-asserted-by":"crossref","first-page":"e1745","DOI":"10.1002\/mgg3.1745","article-title":"SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease","volume":"9","author":"Bennett","year":"2021","journal-title":"Mol Genet Genomic Med"},{"issue":"20","key":"2024072617063960800_fcae239-B108","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1101\/gad.224923.113","article-title":"A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage","volume":"27","author":"Richard","year":"2013","journal-title":"Genes Dev"},{"issue":"4","key":"2024072617063960800_fcae239-B109","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1042\/BST20120061","article-title":"Comparison of the yeast and human nuclear exosome complexes","volume":"40","author":"Sloan","year":"2012","journal-title":"Biochem Soc Trans"},{"issue":"6","key":"2024072617063960800_fcae239-B110","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1083\/jcb.200701042","article-title":"Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage","volume":"177","author":"Suraweera","year":"2007","journal-title":"J Cell Biol"},{"issue":"7","key":"2024072617063960800_fcae239-B111","doi-asserted-by":"crossref","first-page":"2094","DOI":"10.1016\/j.celrep.2020.01.087","article-title":"Sen1 is recruited to replication forks via Ctf4 and Mrc1 and promotes genome stability","volume":"30","author":"Appanah","year":"2020","journal-title":"Cell Rep"},{"issue":"16","key":"2024072617063960800_fcae239-B112","doi-asserted-by":"crossref","first-page":"2952","DOI":"10.1016\/j.molcel.2022.06.021","article-title":"Sen1 is a key regulator of transcription-driven conflicts","volume":"82","author":"Aiello","year":"2022","journal-title":"Mol Cell"},{"issue":"5851","key":"2024072617063960800_fcae239-B113","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1126\/science.1147182","article-title":"Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends","volume":"318","author":"Azzalin","year":"2007","journal-title":"Science"},{"issue":"2","key":"2024072617063960800_fcae239-B114","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ncb1685","article-title":"Developmentally regulated transcription of mammalian telomeres by DNA-dependent RNA polymerase II","volume":"10","author":"Schoeftner","year":"2008","journal-title":"Nat Cell Biol"},{"issue":"2","key":"2024072617063960800_fcae239-B115","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.dnarep.2010.10.012","article-title":"Role of senataxin in DNA damage and telomeric stability","volume":"10","author":"De Amicis","year":"2011","journal-title":"DNA Repair (Amst)"},{"issue":"9","key":"2024072617063960800_fcae239-B116","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1016\/j.jocn.2013.11.048","article-title":"Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage","volume":"21","author":"Roda","year":"2014","journal-title":"J Clin Neurosci"},{"issue":"50","key":"2024072617063960800_fcae239-B117","doi-asserted-by":"crossref","first-page":"30194","DOI":"10.1074\/jbc.270.50.30194","article-title":"Structure-specific nuclease activity in yeast nucleotide excision repair protein Rad2","volume":"270","author":"Habraken","year":"1995","journal-title":"J Biol Chem"},{"issue":"4","key":"2024072617063960800_fcae239-B118","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1128\/EC.05320-11","article-title":"Interactions of Sen1, Nrd1, and Nab3 with multiple phosphorylated forms of the Rpb1 C-terminal domain in Saccharomyces cerevisiae","volume":"11","author":"Chinchilla","year":"2012","journal-title":"Eukaryot Cell"},{"issue":"1\u20132","key":"2024072617063960800_fcae239-B119","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0027-5107(00)00037-3","article-title":"Nucleotide excision repair in yeast","volume":"451","author":"Prakash","year":"2000","journal-title":"Mutat Res"},{"issue":"14","key":"2024072617063960800_fcae239-B120","doi-asserted-by":"crossref","first-page":"9047","DOI":"10.1093\/nar\/gku601","article-title":"DNA damage triggers SAF-A and RNA biogenesis factors exclusion from chromatin coupled to R-loops removal","volume":"42","author":"Britton","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"2024072617063960800_fcae239-B121","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/j.cell.2016.10.001","article-title":"Transient RNA-DNA hybrids are required for efficient double-strand break repair","volume":"167","author":"Ohle","year":"2016","journal-title":"Cell"},{"issue":"1","key":"2024072617063960800_fcae239-B122","doi-asserted-by":"crossref","first-page":"2592","DOI":"10.1038\/s41467-018-05008-8","article-title":"A senataxin-associated exonuclease SAN1 is required for resistance to DNA interstrand cross-links","volume":"9","author":"Andrews","year":"2018","journal-title":"Nat Commun"},{"issue":"17","key":"2024072617063960800_fcae239-B123","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1101\/gad.241620.114","article-title":"Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage","volume":"28","author":"Hill","year":"2014","journal-title":"Genes Dev"},{"issue":"14","key":"2024072617063960800_fcae239-B124","doi-asserted-by":"crossref","first-page":"6794","DOI":"10.1093\/nar\/gkw428","article-title":"Sen1, the yeast homolog of human senataxin, plays a more direct role than Rad26 in transcription coupled DNA repair","volume":"44","author":"Li","year":"2016","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2024072617063960800_fcae239-B125","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s10048-012-0347-4","article-title":"The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases","volume":"14","author":"Arning","year":"2013","journal-title":"Neurogenetics"},{"issue":"3","key":"2024072617063960800_fcae239-B126","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1086\/301769","article-title":"Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34","volume":"62","author":"Chance","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"Pt 6","key":"2024072617063960800_fcae239-B127","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1093\/brain\/awf127","article-title":"Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: Synonyms for the same disorder?","volume":"125","author":"De Jonghe","year":"2002","journal-title":"Brain"},{"issue":"Pt 8","key":"2024072617063960800_fcae239-B128","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1093\/brain\/122.8.1539","article-title":"Autosomal dominant juvenile amyotrophic lateral sclerosis","volume":"122","author":"Rabin","year":"1999","journal-title":"Brain"},{"issue":"4","key":"2024072617063960800_fcae239-B129","doi-asserted-by":"crossref","first-page":"e00669","DOI":"10.1002\/brb3.669","article-title":"High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis","volume":"7","author":"Tripolszki","year":"2017","journal-title":"Brain Behav"},{"issue":"1","key":"2024072617063960800_fcae239-B130","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-009-0196-y","article-title":"Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: Implications for clinical management","volume":"11","author":"Anheim","year":"2010","journal-title":"Neurogenetics"},{"issue":"Pt 10","key":"2024072617063960800_fcae239-B131","doi-asserted-by":"crossref","first-page":"2688","DOI":"10.1093\/brain\/awp211","article-title":"Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype\/phenotype correlation study of a cohort of 90 patients","volume":"132","author":"Anheim","year":"2009","journal-title":"Brain"},{"issue":"1","key":"2024072617063960800_fcae239-B132","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s10048-006-0067-8","article-title":"In cis autosomal dominant mutation of Senataxin associated with tremor\/ataxia syndrome","volume":"8","author":"Bassuk","year":"2007","journal-title":"Neurogenetics"},{"issue":"4","key":"2024072617063960800_fcae239-B133","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1007\/s12311-009-0130-8","article-title":"Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2","volume":"8","author":"Fogel","year":"2009","journal-title":"Cerebellum"},{"issue":"3","key":"2024072617063960800_fcae239-B134","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.nmd.2011.09.006","article-title":"SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy","volume":"22","author":"Rudnik-Sch\u00f6neborn","year":"2012","journal-title":"Neuromuscul Disord"},{"issue":"11\u201312","key":"2024072617063960800_fcae239-B135","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1007\/s12031-023-02169-0","article-title":"Role of senataxin in amyotrophic lateral sclerosis","volume":"73","author":"Tsui","year":"2023","journal-title":"J Mol Neurosci"},{"issue":"10","key":"2024072617063960800_fcae239-B136","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1093\/hmg\/7.10.1531","article-title":"The role of the SMN gene in proximal spinal muscular atrophy","volume":"7","author":"Lefebvre","year":"1998","journal-title":"Hum Mol Genet"},{"issue":"3","key":"2024072617063960800_fcae239-B137","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat Genet"},{"issue":"5\u20136","key":"2024072617063960800_fcae239-B138","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting. (26\u201328 June 1992, Bonn, Germany)","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"2024072617063960800_fcae239-B139","doi-asserted-by":"crossref","first-page":"e921","DOI":"10.1371\/journal.pone.0000921","article-title":"Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs","volume":"2","author":"Gabanella","year":"2007","journal-title":"PLoS One"},{"issue":"2","key":"2024072617063960800_fcae239-B140","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.cell.2012.09.011","article-title":"SMN is required for sensory-motor circuit function in Drosophila","volume":"151","author":"Imlach","year":"2012","journal-title":"Cell"},{"issue":"2","key":"2024072617063960800_fcae239-B141","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.cell.2012.09.012","article-title":"An SMN-dependent U12 splicing event essential for motor circuit function","volume":"151","author":"Lotti","year":"2012","journal-title":"Cell"},{"issue":"4","key":"2024072617063960800_fcae239-B142","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.cell.2008.03.031","article-title":"SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing","volume":"133","author":"Zhang","year":"2008","journal-title":"Cell"},{"issue":"5","key":"2024072617063960800_fcae239-B143","doi-asserted-by":"crossref","first-page":"a012757","DOI":"10.1101\/cshperspect.a012757","article-title":"Repair of double-strand breaks by end joining","volume":"5","author":"Chiruvella","year":"2013","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"11","key":"2024072617063960800_fcae239-B144","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1038\/nn.3537","article-title":"Maintaining genome stability in the nervous system","volume":"16","author":"McKinnon","year":"2013","journal-title":"Nat Neurosci"},{"key":"2024072617063960800_fcae239-B145","doi-asserted-by":"crossref","first-page":"39","DOI":"10.4137\/JEN.S33122","article-title":"Molecular mechanisms of neurodegeneration in spinal muscular atrophy","volume":"10","author":"Ahmad","year":"2016","journal-title":"J Exp Neurosci"},{"issue":"3","key":"2024072617063960800_fcae239-B146","doi-asserted-by":"crossref","first-page":"223","DOI":"10.3109\/17482968.2010.545952","article-title":"Senataxin mutations and amyotrophic lateral sclerosis","volume":"12","author":"Hirano","year":"2011","journal-title":"Amyotroph Lateral Scler"},{"key":"2024072617063960800_fcae239-B147","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1007\/978-3-319-89689-2_10","article-title":"Senataxin, a novel helicase at the interface of RNA transcriptome regulation and neurobiology: From normal function to pathological roles in motor neuron disease and cerebellar degeneration","volume":"20","author":"Bennett","year":"2018","journal-title":"Adv Neurobiol"},{"key":"2024072617063960800_fcae239-B148","doi-asserted-by":"crossref","first-page":"e08007","DOI":"10.7554\/eLife.08007","article-title":"Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutieres syndrome","volume":"4","author":"Lim","year":"2015","journal-title":"Elife"},{"issue":"3","key":"2024072617063960800_fcae239-B149","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.molcel.2017.12.030","article-title":"Senataxin mutation reveals how R-loops promote transcription by blocking DNA methylation at gene promoters","volume":"69","author":"Grunseich","year":"2018","journal-title":"Mol Cell"},{"issue":"10","key":"2024072617063960800_fcae239-B150","doi-asserted-by":"crossref","first-page":"2225","DOI":"10.4103\/1673-5374.335798","article-title":"Zinc finger protein ZPR1: Promising survival motor neuron protein-dependent modifier for the rescue of spinal muscular atrophy","volume":"17","author":"Cuartas","year":"2022","journal-title":"Neural Regen Res"},{"issue":"7","key":"2024072617063960800_fcae239-B151","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1128\/MCB.25.7.2744-2756.2005","article-title":"ZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies","volume":"25","author":"Gangwani","year":"2005","journal-title":"Mol Cell Biol"},{"issue":"6","key":"2024072617063960800_fcae239-B152","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1083\/jcb.143.6.1471","article-title":"Interaction of ZPR1 with translation elongation factor-1alpha in proliferating cells","volume":"143","author":"Gangwani","year":"1998","journal-title":"J Cell Biol"},{"issue":"35","key":"2024072617063960800_fcae239-B153","doi-asserted-by":"crossref","first-page":"13930","DOI":"10.1073\/pnas.0704915104","article-title":"Structural insights into the interaction of the evolutionarily conserved ZPR1 domain tandem with eukaryotic EF1A, receptors, and SMN complexes","volume":"104","author":"Mishra","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"2024072617063960800_fcae239-B154","doi-asserted-by":"crossref","first-page":"2963","DOI":"10.1091\/mbc.9.10.2963","article-title":"The cytoplasmic zinc finger protein ZPR1 accumulates in the nucleolus of proliferating cells","volume":"9","author":"Galcheva-Gargova","year":"1998","journal-title":"Mol Biol Cell"},{"issue":"52","key":"2024072617063960800_fcae239-B155","doi-asserted-by":"crossref","first-page":"40330","DOI":"10.1074\/jbc.M608165200","article-title":"Deficiency of the zinc finger protein ZPR1 causes defects in transcription and cell cycle progression","volume":"281","author":"Gangwani","year":"2006","journal-title":"J Biol Chem"},{"issue":"4","key":"2024072617063960800_fcae239-B156","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/35070059","article-title":"Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein","volume":"3","author":"Gangwani","year":"2001","journal-title":"Nat Cell Biol"},{"issue":"19","key":"2024072617063960800_fcae239-B157","doi-asserted-by":"crossref","first-page":"7471","DOI":"10.1073\/pnas.0602057103","article-title":"Deficiency of the zinc finger protein ZPR1 causes neurodegeneration","volume":"103","author":"Doran","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"24","key":"2024072617063960800_fcae239-B158","first-page":"6986","article-title":"Genetic inhibition of JNK3 ameliorates spinal muscular atrophy","volume":"24","author":"Genabai","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2024072617063960800_fcae239-B159","doi-asserted-by":"crossref","first-page":"1179069519867915","DOI":"10.1177\/1179069519867915","article-title":"ZPR1-dependent neurodegeneration is mediated by the JNK signaling pathway","volume":"13","author":"Jiang","year":"2019","journal-title":"J Exp Neurosci"},{"issue":"12","key":"2024072617063960800_fcae239-B160","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/hmg\/dds102","article-title":"The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy","volume":"21","author":"Ahmad","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"1","key":"2024072617063960800_fcae239-B161","doi-asserted-by":"crossref","first-page":"8295","DOI":"10.1038\/s41598-017-07603-z","article-title":"Deregulation of ZPR1 causes respiratory failure in spinal muscular atrophy","volume":"7","author":"Genabai","year":"2017","journal-title":"Sci Rep"},{"issue":"9","key":"2024072617063960800_fcae239-B162","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1038\/nn.4604","article-title":"C9orf72 expansion disrupts ATM-mediated chromosomal break repair","volume":"20","author":"Walker","year":"2017","journal-title":"Nat Neurosci"},{"issue":"1","key":"2024072617063960800_fcae239-B163","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1186\/s40478-023-01665-z","article-title":"Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity","volume":"11","author":"Bennett","year":"2023","journal-title":"Acta Neuropathol Commun"},{"issue":"1","key":"2024072617063960800_fcae239-B164","doi-asserted-by":"crossref","first-page":"17665","DOI":"10.1038\/s41598-022-21617-2","article-title":"Transcriptional targets of senataxin and E2 promoter binding factors are associated with neuro-degenerative pathways during increased autophagic flux","volume":"12","author":"Casey","year":"2022","journal-title":"Sci Rep"},{"issue":"8","key":"2024072617063960800_fcae239-B165","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1080\/15548627.2020.1796292","article-title":"SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation","volume":"17","author":"Richard","year":"2021","journal-title":"Autophagy"},{"issue":"22","key":"2024072617063960800_fcae239-B166","doi-asserted-by":"crossref","first-page":"4056","DOI":"10.1111\/febs.13917","article-title":"Sen1, the homolog of human Senataxin, is critical for cell survival through regulation of redox homeostasis, mitochondrial function, and the TOR pathway in Saccharomyces cerevisiae","volume":"283","author":"Sariki","year":"2016","journal-title":"FEBS J"},{"issue":"2","key":"2024072617063960800_fcae239-B167","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.neuron.2016.09.015","article-title":"Poly(GR) in C9ORF72-related ALS\/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons","volume":"92","author":"Lopez-Gonzalez","year":"2016","journal-title":"Neuron"},{"issue":"4","key":"2024072617063960800_fcae239-B168","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/s41477-022-01125-x","article-title":"R-loops at microRNA encoding loci promote co-transcriptional processing of pri-miRNAs in plants","volume":"8","author":"Gonzalo","year":"2022","journal-title":"Nat Plants"},{"key":"2024072617063960800_fcae239-B169","doi-asserted-by":"crossref","first-page":"101529","DOI":"10.1016\/j.arr.2021.101529","article-title":"Deregulated mitochondrial microRNAs in Alzheimer\u2019s disease: Focus on synapse and mitochondria","volume":"73","author":"Gowda","year":"2022","journal-title":"Ageing Res Rev"},{"key":"2024072617063960800_fcae239-B170","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1016\/j.freeradbiomed.2021.07.013","article-title":"Defective mitophagy and synaptic degeneration in Alzheimer\u2019s disease: Focus on aging, mitochondria and synapse","volume":"172","author":"Morton","year":"2021","journal-title":"Free Radic Biol Med"},{"issue":"5","key":"2024072617063960800_fcae239-B171","doi-asserted-by":"crossref","first-page":"742","DOI":"10.3390\/cells12050742","article-title":"Mitochondria localized microRNAs: An unexplored miRNA niche in Alzheimer\u2019s disease and aging","volume":"12","author":"Rivera","year":"2023","journal-title":"Cells"},{"issue":"5","key":"2024072617063960800_fcae239-B172","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1007\/s12035-020-02248-y","article-title":"Aging-dependent mitophagy dysfunction in Alzheimer\u2019s disease","volume":"58","author":"Song","year":"2021","journal-title":"Mol Neurobiol"},{"issue":"21","key":"2024072617063960800_fcae239-B173","doi-asserted-by":"crossref","first-page":"12497","DOI":"10.1093\/nar\/gkac1107","article-title":"A common transcriptional mechanism involving R-loop and RNA abasic site regulates an enhancer RNA of APOE","volume":"50","author":"Watts","year":"2022","journal-title":"Nucleic Acids Res"},{"issue":"3","key":"2024072617063960800_fcae239-B174","doi-asserted-by":"crossref","first-page":"17","DOI":"10.29245\/2572.942X\/2016\/3.1016","article-title":"DNA-PK deficiency in Alzheimer\u2019s disease","volume":"1","author":"Kanungo","year":"2016","journal-title":"J Neurol Neuromedicine"},{"issue":"6","key":"2024072617063960800_fcae239-B175","doi-asserted-by":"crossref","first-page":"397","DOI":"10.3109\/00207450903411133","article-title":"DNA damage and impairment of DNA repair in Alzheimer\u2019s disease","volume":"120","author":"Obulesu","year":"2010","journal-title":"Int J Neurosci"},{"issue":"1","key":"2024072617063960800_fcae239-B176","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1007\/s12035-020-02109-8","article-title":"DNA double-strand break accumulation in Alzheimer\u2019s disease: Evidence from experimental models and postmortem human brains","volume":"58","author":"Thadathil","year":"2021","journal-title":"Mol Neurobiol"}],"container-title":["Brain Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/braincomms\/advance-article-pdf\/doi\/10.1093\/braincomms\/fcae239\/58547125\/fcae239.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/6\/4\/fcae239\/58659421\/fcae239.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/6\/4\/fcae239\/58659421\/fcae239.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,27]],"date-time":"2024-07-27T00:59:02Z","timestamp":1722041942000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/braincomms\/article\/doi\/10.1093\/braincomms\/fcae239\/7713869"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":176,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,7,2]]}},"URL":"https:\/\/doi.org\/10.1093\/braincomms\/fcae239","relation":{},"ISSN":["2632-1297"],"issn-type":[{"value":"2632-1297","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024]]},"published":{"date-parts":[[2024]]},"article-number":"fcae239"}}