SETX Antibody

1. Data suggest that senataxin (SETX) functions at DNA double-strand breaks (DSBs) in order to limit translocations and ensure cell viability. PMID: 29416069
2. Expression of AOA2-causative form of SETX in Drosophila muscles resulted in an alteration of translational repression of Elav. PMID: 28245518
3. The pan-neuronal expression of wild-type or mutant forms of human senataxin induced morphological plasticity at neuromuscular junction synapses. PMID: 27197982
4. Novel compound heterozygous mutations of SETX in Chinese AOA2 pedigree were identified, which broaden the mutation spectrum of SETX. PMID: 27644330
5. The role of senataxin in regulating gene expression on a genome-wide scale in Ataxia oculomotor apraxia 2 neurons is described. PMID: 26231220
6. these data indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and the development of neurologic disorders. PMID: 25822250
7. BRCA1/SETX complexes support a DNA repair mechanism that addresses R-loop-based DNA damage at transcriptional pause sites. PMID: 25699710
8. Results identify novel genes related to senataxin function in normal and disease states. PMID: 24760770
9. genetic variations in the senataxin gene may contribute to Alzheimer's disease pathogenesis in the Taiwanese Han population. PMID: 24694197
10. 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. PMID: 24244371
11. Description of a new SETX gene mutation, which when combined with a recognized SETX mutation results in ataxia with oculomotor apraxia type 2. PMID: 23566282
12. This study report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing PMID: 23786967
13. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein. PMID: 23941260
14. provide evidence that Rrp45, a subunit of the exosome, associates with SETX in a manner dependent on SETX sumoylation PMID: 24105744
15. Significance of all previously reported SETX missense mutations as well as six newly identified variations in 54 patients suspected of having amyotrophic lateral sclerosis 4. PMID: 23129421
16. Senataxin plays an important cellular role at the interface of transcription and the DNA damage response and that the resolution of R-loop structures is a key event in the maintenance of genome stability. PMID: 23149945
17. novel missense mutation c.6406C>T (p.R2136C) in a patient with inflammatory radiculoneuropathy and amyotrophic lateral sclerosis PMID: 22577233
18. This sstudy descibed that SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy. PMID: 22088787
19. Senataxin mutations in amyotrophic lateral sclerosis PMID: 21190393
20. In effect, R-loops formed over G-rich pause sites, followed by their resolution by senataxin, are key steps in the termination process. PMID: 21700224
21. results reveal a key role of senataxin in neuronal differentiation through the fibroblast growth factor 8 signalling and This study provided initial molecular bases to explain the neurodegeneration associated with loss-of-function mutations in senataxin. PMID: 21576111
22. The partial co-localization of SETX with telomeric DNA, demonstrated by combined immunofluorescence-Q-FISH and chromatin immunoprecipitation, suggests a possible involvement of SETX in telomere stability. PMID: 21112256
23. A novel nonsense truncating mutation c.6859 C > T, R2287X in SETX gene was identified in patients from one family with ataxia with oculomotor apraxia type 2. PMID: 21324166
24. SETX mutations have a role in ataxia with oculomotor apraxia [case report] PMID: 19593598
25. Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination. PMID: 14770181
26. Missense Mutations in senataxin is associated with juvenile amyotrophic lateral sclerosis PMID: 15106121
27. Four mutations in senataxin in the French-Canadian population including two novel missense mutations: the 5927T-->G mutation (L1976R), and the 193G-->A mutation(E65K). PMID: 15732101
28. 2 new homozygous missense mutations in SETX, M274I & R1294C, were found.The double missense mutations are responsible for autosomal recessive ataxia-ocular apraxia 2 but not autosomal dominant juvenile ALS. PMID: 16717225
29. Mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor with mutations in syntaxin. PMID: 17096168
30. defect in 2O2-induced DNA double-strand breaks repair was corrected by full-length SETX cDNA PMID: 17562789
31. A patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure. PMID: 17593543
32. Clinically this family presented with a phenotype combining typical features of AOA2 and ALS4; thus extending the phenotypic spectrum of SETX mutations. PMID: 18350359
33. study identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with autosomal recessive cerebellar ataxia with cerebellar atrophy and raised alpha-fetoprotein PMID: 18405395
34. the presence of this variation in a patient with sporadic ALS, and its absence in 200 controls, supports an association between senataxin and sporadic amyotrophic lateral sclerosis PMID: 19058054
35. study analysed the phenotypic spectrum of 19 ataxia with oculo-motor apraxia type 2 patients with mutations in SETX PMID: 19141356
36. senataxin plays a role in coordinating transcriptional events, in addition to its role in DNA repair. PMID: 19515850
37. We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels. PMID: 19569000
38. large deletions, insertions, and duplications are probably an underestimated cause for ataxia with oculomotor apraxia 2 PMID: 19744353
39. Human Senataxin, is a nuclear protein involved in the DNA damage response. It is mostly located in the nucleus and nucleoplasm with less staining in the cytoplasm. It is involved in DNA single-strand break repair. PMID: 17562789

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HGNC: 445

OMIM: 602433

KEGG: hsa:23064

STRING: 9606.ENSP00000224140

UniGene: Hs.460317