SETX

Summary

Gene Symbol: SETX
Description: senataxin
Alias: ALS4, AOA2, SCAR1, Sen1, bA479K20.2, SEN1 homolog, amyotrophic lateral sclerosis 4 protein
Species: human
Products:     SETX

Top Publications

  1. Suraweera A, Becherel O, Chen P, Rundle N, Woods R, Nakamura J, et al. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage. J Cell Biol. 2007;177:969-79 pubmed
    ..b>AOA2 cells are sensitive to H2O2, camptothecin, and mitomycin C, but not to ionizing radiation, and sensitivity was ..
  2. Bernard V, Minnerop M, Burk K, Kreuz F, Gillessen Kaesbach G, Zühlke C. Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2. BMC Med Genet. 2009;10:87 pubmed publisher
    ..AOA2 is caused by mutations within the senataxin gene (SETX)...
  3. Moreira M, Klur S, Watanabe M, Nemeth A, Le Ber I, Moniz J, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet. 2004;36:225-7 pubmed
    Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia...
  4. Arning L, Epplen J, Rahikkala E, Hendrich C, Ludolph A, Sperfeld A. The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases. Neurogenetics. 2013;14:53-61 pubmed publisher
    Mutations in the senataxin (SETX) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2...
  5. Duquette A, Roddier K, McNabb Baltar J, Gosselin I, St Denis A, Dicaire M, et al. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol. 2005;57:408-14 pubmed
    ..The study of this large French-Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in senataxin including the more common founder mutation in the French-Canadian population. ..
  6. Nemeth A, Bochukova E, Dunne E, Huson S, Elston J, Hannan M, et al. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet. 2000;67:1320-6 pubmed
    ..9-cM interval on chromosome 9q34. This work will ultimately allow the disease gene to be identified and its relevance to other types of autosomal recessive cerebellar ataxias to be determined. ..
  7. Vantaggiato C, Bondioni S, Airoldi G, Bozzato A, Borsani G, Rugarli E, et al. Senataxin modulates neurite growth through fibroblast growth factor 8 signalling. Brain. 2011;134:1808-28 pubmed publisher
    Senataxin is encoded by the SETX gene and is mainly involved in two different neurodegenerative diseases, the dominant juvenile form of amyotrophic lateral sclerosis type 4 and a recessive form of ataxia with oculomotor apraxia type 2...
  8. Asaka T, Yokoji H, Ito J, Yamaguchi K, Matsushima A. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. Neurology. 2006;66:1580-1 pubmed
    Mutations in the Senataxin gene (SETX) are associated with autosomal recessive ataxia-ocular apraxia 2 (AOA2) and autosomal dominant juvenile ALS (ALS4)...
  9. Hecker C, Rabiller M, Haglund K, Bayer P, Dikic I. Specification of SUMO1- and SUMO2-interacting motifs. J Biol Chem. 2006;281:16117-27 pubmed

More Information

Publications70

  1. Lynch D, Braastad C, Nagan N. Ovarian failure in ataxia with oculomotor apraxia type 2. Am J Med Genet A. 2007;143A:1775-7 pubmed
    ..oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder associated with mutations in the Senataxin (SETX) gene...
  2. Chen Y, Bennett C, Huynh H, Blair I, Puls I, Irobi J, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004;74:1128-35 pubmed
    Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs...
  3. Bernard V, Stricker S, Kreuz F, Minnerop M, Gillessen Kaesbach G, Zuhlke C. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein. Neuropediatrics. 2008;39:347-50 pubmed publisher
    Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX)...
  4. Bassuk A, Chen Y, Batish S, Nagan N, Opal P, Chance P, et al. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. Neurogenetics. 2007;8:45-9 pubmed
    Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4)...
  5. Wagschal A, Rousset E, Basavarajaiah P, Contreras X, Harwig A, Laurent Chabalier S, et al. Microprocessor, Setx, Xrn2, and Rrp6 co-operate to induce premature termination of transcription by RNAPII. Cell. 2012;150:1147-57 pubmed publisher
    ..Microprocessor orchestrates the recruitment of termination factors Setx and Xrn2, and the 3'-5' exoribonuclease, Rrp6, to initiate RNAPII pausing and premature termination at the HIV-1 ..
  6. Suraweera A, Lim Y, Woods R, Birrell G, Nasim T, Becherel O, et al. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. Hum Mol Genet. 2009;18:3384-96 pubmed publisher
    ..The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been ..
  7. Nicolaou P, Georghiou A, Votsi C, Middleton L, Zamba Papanicolaou E, Christodoulou K. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia. BMC Med Genet. 2008;9:28 pubmed publisher
    ..causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor ..
  8. Tazir M, Ali Pacha L, M Zahem A, Delaunoy J, Fritsch M, Nouioua S, et al. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. J Neurol Sci. 2009;278:77-81 pubmed publisher
    ..is a recently described autosomal recessive cerebellar ataxia (ARCA) caused by mutations in the senataxin gene (SETX)...
  9. Schols L, Arning L, Schule R, Epplen J, Timmann D. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). J Neurol. 2008;255:495-501 pubmed publisher
    ..ocular apraxia type 2 (AOA2) is an autosomal recessive, early onset ataxia caused by mutations in the senataxin (SETX) gene...
  10. Skourti Stathaki K, Proudfoot N, Gromak N. Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination. Mol Cell. 2011;42:794-805 pubmed publisher
    ..Senataxin, a helicase protein associated with AOA2/ALS4 neurodegenerative disorders, acts to resolve these R-loop structures and by so doing allows access of the 5'-3'..
  11. De Amicis A, Piane M, Ferrari F, Fanciulli M, Delia D, Chessa L. Role of senataxin in DNA damage and telomeric stability. DNA Repair (Amst). 2011;10:199-209 pubmed publisher
    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia...
  12. Blauwendraat C, Pletnikova O, Geiger J, Murphy N, Abramzon Y, Rudow G, et al. Genetic analysis of neurodegenerative diseases in a pathology cohort. Neurobiol Aging. 2019;76:214.e1-214.e9 pubmed publisher
    ..we identified 42 individuals who carried a pathogenic mutation in LRRK2, GBA, APP, PSEN1, MAPT, GRN, C9orf72, SETX, SPAST, or CSF1R, and we provide a comprehensive description of the diverse clinicopathological features of these ..
  13. Bennett C, Dastidar S, Ling S, Malik B, Ashe T, Wadhwa M, et al. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathol. 2018;136:425-443 pubmed publisher
    Amyotrophic lateral sclerosis type 4 (ALS4) is a rare, early-onset, autosomal dominant form of ALS, characterized by slow disease progression and sparing of respiratory musculature...
  14. Catford S, O Bryan M, McLachlan R, Delatycki M, Rombauts L. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2. Reprod Biomed Online. 2019;: pubmed publisher
    Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral neuropathy and oculomotor apraxia...
  15. Andrews A, McCartney H, Errington T, D Andrea A, Macara I. A senataxin-associated exonuclease SAN1 is required for resistance to DNA interstrand cross-links. Nat Commun. 2018;9:2592 pubmed publisher
    ..Unexpectedly, SAN1 binds to Senataxin (SETX), an RNA/DNA helicase that resolves R-loops...
  16. Kashimada A, Hasegawa S, Nomura T, Shiraku H, Moriyama K, Suzuki T, et al. Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders. Brain Dev. 2019;41:150-157 pubmed publisher
    ..revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one ataxia with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one ..
  17. Sariki S, Sahu P, Golla U, Singh V, Azad G, Tomar R. 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. FEBS J. 2016;283:4056-4083 pubmed publisher
    ..the Senataxin gene, SETX are known to cause the neurodegenerative disorders, ataxia with oculomotor apraxia type 2 (AOA2), and amyotrophic lateral sclerosis 4 (ALS4)...
  18. Zou Z, Liu M, Li X, Cui L. Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17:249-52 pubmed publisher
    ..Mutations in the alsin (ALS2), senataxin (SETX), and spatacsin (SPG11) genes have been associated with familial ALS with juvenile onset and slow progression, ..
  19. Vrebalov Cindro P, Vrebalov Cindro V. Genetic determination of motor neuron disease and neuropathy. Coll Antropol. 2015;39:261-5 pubmed
    ..g. SOD1, ALS2, SETX, FUS, VAPB, ANG, TARDBP and others), but many of the forms have still not been associated with a particular gene...
  20. Sollier J, Stork C, García Rubio M, Paulsen R, Aguilera A, Cimprich K. Transcription-coupled nucleotide excision repair factors promote R-loop-induced genome instability. Mol Cell. 2014;56:777-85 pubmed publisher
    ..by the absence of diverse RNA processing factors, including the RNA/DNA helicases Aquarius (AQR) and Senataxin (SETX), or by the inhibition of topoisomerase I, are actively processed into DNA double-strand breaks (DSBs) by the ..
  21. Bennett C, La Spada A. 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. Adv Neurobiol. 2018;20:265-281 pubmed publisher
    ..of SETX for neural function, as recessive mutations in the SETX gene cause Ataxia with Oculomotor Apraxia type 2 (AOA2) (OMIM: 606002), which is the third most common form of recessive ataxia, after Friedreich's ataxia and Ataxia-..
  22. Liu Z, Li H, Tan G, Tao Q, Ni W, Cheng X, et al. Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system. Neurobiol Aging. 2014;35:2881.e11-2881.e15 pubmed publisher
    ..We performed this approach to screen 18 causative genes of ALS, including SOD1, SETX, FUS, ANG, TARDBP, ALS2, FIG4, VAPB, OPTN, DAO, VCP, UBQLN2, SPG11, SIGMAR1, DCTN1, SQSTM1, PFN1, and CHMP2B in 8 ..
  23. Perego M, Taiana M, Bresolin N, Comi G, Corti S. R-Loops in Motor Neuron Diseases. Mol Neurobiol. 2019;56:2579-2589 pubmed publisher
    ..Mutations in genes directly involved in R-loop biology, such as SETX (senataxin), or unstable DNA expansion eliciting R-loop generation, such as C9ORF72 HRE, can cause DNA damage and ..
  24. Hill S, Rolland T, Adelmant G, Xia X, Owen M, Dricot A, et al. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Genes Dev. 2014;28:1957-75 pubmed publisher
    ..proteins identified, genetic interactions were detected between BRCA1 and four of the interactors: TONSL, SETX, TCEANC, and TCEA2...
  25. Keller B, Manzanares C, Jara C, Lobaton J, Studer B, Raatz B. Fine-mapping of a major QTL controlling angular leaf spot resistance in common bean (Phaseolus vulgaris L.). Theor Appl Genet. 2015;128:813-26 pubmed publisher
    ..Here, we report on a fine-mapping approach of a major quantitative trait locus (QTL) ALS4.1(GS, UC) for ALS resistance in a mapping population derived from the resistant genotype G5686 and the susceptible ..
  26. Narain P, Pandey A, Gupta S, Gomes J, Bhatia R, Vivekanandan P. Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis. Neurobiol Aging. 2018;71:265.e9-265.e14 pubmed publisher
    ..have not been previously reported in ALS patients; this includes 3 novel variants (OPTN: K489E, DAO: E121K, and SETX: L2163V) that are not reported in large population databases and 4 rare variants (CHMP2B: E45K, SQSTM1: G262R and ..
  27. Roda R, Rinaldi C, Singh R, Schindler A, Blackstone C. Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. J Clin Neurosci. 2014;21:1627-31 pubmed publisher
    ..Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in SETX, which encodes the senataxin protein, a DNA/RNA helicase...
  28. Tariq H, Imran R, Naz S. A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. J Clin Neurol. 2018;14:498-504 pubmed publisher
    ..spinocerebellar ataxia, autosomal recessive 1 [OMIM 606002, also referred to as ataxia oculomotor apraxia type 2 (AOA2)] and ataxia telangiectasia (OMIM 208900) in the two families. A novel homozygous missense mutation c.202 C>T (p...
  29. Cohen S, Puget N, Lin Y, Clouaire T, Aguirrebengoa M, Rocher V, et al. Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations. Nat Commun. 2018;9:533 pubmed publisher
    ..Our data suggest that senataxin functions at DSBs in order to limit translocations and ensure cell viability, providing new insights on AOA2/ALS4 neuropathies.
  30. Yeo A, Becherel O, Luff J, Graham M, Richard D, Lavin M. Senataxin controls meiotic silencing through ATR activation and chromatin remodeling. Cell Discov. 2015;1:15025 pubmed publisher
    ..Here we provide evidence that the disruption of Setx leads to reduced SUMOylation and disruption of protein localization across the XY body during meiosis...
  31. Grunseich C, Wang I, Watts J, Burdick J, Guber R, Zhu Z, et al. Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters. Mol Cell. 2018;69:426-437.e7 pubmed publisher
    ..Studying cells from patients with a motor neuron disease (amyotrophic lateral sclerosis 4 [ALS4]) caused by a mutation in senataxin, we uncovered how R-loops promote transcription...
  32. Groh M, Albulescu L, Cristini A, Gromak N. Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration. J Mol Biol. 2017;429:3181-3195 pubmed publisher
    ..The RNA/DNA helicase senataxin (SETX) is one of the best characterised R-loop-binding factors in vivo...
  33. Yüce O, West S. Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response. Mol Cell Biol. 2013;33:406-17 pubmed publisher
  34. Saiga T, Tateishi T, Torii T, Kawamura N, Nagara Y, Shigeto H, et al. Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation. J Neurol Neurosurg Psychiatry. 2012;83:763-4 pubmed publisher
  35. Becherel O, Sun J, Yeo A, Nayler S, Fogel B, Gao F, et al. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2. Hum Mol Genet. 2015;24:5759-74 pubmed publisher
    ..Recent evidence suggests that the protein defective in this syndrome, senataxin (SETX), functions in RNA processing to protect the integrity of the genome...
  36. Choudry T, Hilton Jones D, Lennox G, Houlden H. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. Pract Neurol. 2017;: pubmed publisher
    ..the most frequent autosomal recessive ataxia after Friedreich's ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years...
  37. Nishiyama A, Niihori T, Warita H, Izumi R, Akiyama T, Kato M, et al. Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis. Neurobiol Aging. 2017;53:194.e1-194.e8 pubmed publisher
    ..Known variants in ANG, OPTN, SETX, and TARDBP were identified in 6 patients...
  38. Bohlega S, Shinwari J, Al Sharif L, Khalil D, Alkhairallah T, Al Tassan N. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia. BMC Med Genet. 2011;12:27 pubmed publisher
    ..Mutations in the APTX gene were reported in AOA1 patients, mutations in SETX gene were reported in patients with AOA2 and mutations in MRE11 were identified in ATLD patients...
  39. Hirano M, Quinzii C, Mitsumoto H, Hays A, Roberts J, Richard P, et al. Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:223-7 pubmed publisher
    We studied three patients with mutations in the senataxin gene (SETX). One had juvenile onset of ALS. The second case resembled hereditary motor neuropathy...
  40. Airoldi G, Guidarelli A, Cantoni O, Panzeri C, Vantaggiato C, Bonato S, et al. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin. Neurogenetics. 2010;11:91-100 pubmed publisher
    ..mutations either in homozygous or compound heterozygous condition were so far identified in the associated gene SETX (MIM 608465)...
  41. Datta N, Hohler A. A new SETX mutation producing AOA2 in two siblings. Int J Neurosci. 2013;123:670-3 pubmed publisher
    In this paper, we document two cases of a new SETX mutation (820:A>G) combined with an established recessive SETX mutation (5927:T>G) causing ataxia with oculomotor apraxia type 2 (AOA2)...
  42. Lu C, Zheng Y, Dong Y, Li H. Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing. BMC Neurol. 2016;16:179 pubmed publisher
    ..These features were typical features of ataxia with oculomotor apraxia type 2 (AOA2) and in line with the genetic results. However, no specific mutation was identified in the other two pedigrees...
  43. Miller M, Rialdi A, Ho J, Tilove M, Martínez Gil L, Moshkina N, et al. Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis. Nat Immunol. 2015;16:485-94 pubmed publisher
    The human helicase senataxin (SETX) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (ALS4) and ataxia with oculomotor apraxia (AOA2). Here we identified a role for SETX in controlling the antiviral response...
  44. Mariani L, Rivaud Pechoux S, Charles P, Ewenczyk C, Méneret A, Monga B, et al. Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein. Sci Rep. 2017;7:15284 pubmed publisher
    Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown...
  45. Shen C, Lin W, Lin T, Wang W, Tsai C, Hsu B, et al. Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan. Chin J Physiol. 2014;57:83-9 pubmed publisher
    ..Mutations in human senataxin (SETX), an ortholog yeast protein of Sen1, have been identified to cause the syndrome of ataxia with oculomotor apraxia ..
  46. Chance P, Rabin B, Ryan S, Ding Y, Scavina M, Crain B, et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet. 1998;62:633-40 pubmed
    ..gene for this disorder, classified as a form of juvenile amyotrophic lateral sclerosis (ALS), is designated "ALS4." We performed a genomewide search and detected strong evidence for linkage of the ALS4 locus to markers from ..
  47. Rudnik Schoneborn S, Arning L, Epplen J, Zerres K. SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. Neuromuscul Disord. 2012;22:258-62 pubmed publisher
    ..b>SETX gene sequencing revealed the previously reported heterozygous missense mutation c.1166T<C, L389S in the patients...
  48. Fogel B, Cho E, Wahnich A, Gao F, Becherel O, Wang X, et al. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Hum Mol Genet. 2014;23:4758-69 pubmed publisher
    ..Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4)...
  49. Taniguchi T, Hokezu Y, Okada T, Ishibashi M, Hashiguchi A, Matsuura E, et al. A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report. Rinsho Shinkeigaku. 2017;: pubmed publisher
    ..Our genetic study detected senataxin (SETX) gene mutation (c.8C>T,p...
  50. Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, et al. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. Orphanet J Rare Dis. 2013;8:123 pubmed publisher
    ..including ataxia-telangectasia (A-T, ATM gene), ataxia with oculomotor apraxia type 1 (AOA1, APTX gene) and type 2 (AOA2, SETX gene)...
  51. Zhao D, Gish G, Braunschweig U, Li Y, Ni Z, Schmitges F, et al. SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination. Nature. 2016;529:48-53 pubmed publisher
    ..Defects in this pathway can influence transcription termination and may contribute to neurodegenerative disorders. ..
  52. Choudhury S, Vs A, Mushtaq Z, Kumar V. Altered translational repression of an RNA-binding protein, Elav by AOA2-causative Senataxin mutation. Synapse. 2017;71: pubmed publisher
    Mutations in Senataxin (SETX) gene causes two types of neurological disorders, Amyotrophic Lateral Sclerosis (ALS4) and Ataxia with Oculomotor Apraxia type 2 (AOA2)...
  53. Richard P, Feng S, Manley J. 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. Genes Dev. 2013;27:2227-32 pubmed publisher
    Senataxin (SETX) is an RNA/DNA helicase implicated in transcription termination and the DNA damage response and is mutated in two distinct neurological disorders: AOA2 (ataxia oculomotor apraxia 2) and ALS4 (amyotrophic lateral sclerosis ..
  54. Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, et al. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. BMC Med Genet. 2015;16:16 pubmed publisher
    ..Exome sequencing identified a homozygous c.6292C > T (p.Arg2098*) mutation in SETX and a heterozygous c.346G > A (p...
  55. Hatchi E, Skourti Stathaki K, Ventz S, Pinello L, Yen A, Kamieniarz Gdula K, et al. BRCA1 recruitment to transcriptional pause sites is required for R-loop-driven DNA damage repair. Mol Cell. 2015;57:636-47 pubmed publisher
    ..There it mediates the recruitment of a specific, physiological binding partner, senataxin (SETX)...
  56. Zhao Z, Chen W, Wu Z, Wang N, Zhao G, Chen W, et al. A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10:118-22 pubmed publisher
    ..This study has broadened the mutation spectrum of senataxin and expanded the clinical phenotypes of senataxin mutations. ..
  57. Bennett C, Chen Y, Vignali M, Lo R, Mason A, Unal A, et al. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. PLoS ONE. 2013;8:e78837 pubmed publisher
    ..Ataxia with Oculomotor Apraxia type 2 (AOA2), and dominant mutations cause amyotrophic lateral sclerosis type 4 (ALS4). Senataxin contains an amino-terminal protein-interaction domain and a carboxy-terminal DNA/RNA helicase domain...
  58. Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, et al. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1. J Neurol Sci. 2013;331:158-60 pubmed publisher
    Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level...
  59. Mushtaq Z, Choudhury S, Gangwar S, Orso G, Kumar V. Human Senataxin Modulates Structural Plasticity of the Neuromuscular Junction in Drosophila through a Neuronally Conserved TGF? Signalling Pathway. Neurodegener Dis. 2016;16:324-36 pubmed publisher
    ..amyotrophic lateral sclerosis type 4 (ALS4) and a recessive form called ataxia with oculomotor apraxia type 2 (AOA2). SETX is a putative DNA/RNA helicase involved in RNA metabolism...