APTX Antibody

1. we demonstrated that miR-424 regulated radiosensitivity by directly targeting aprataxin. PMID: 27769049
2. Whole-exome sequencing on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype. PMID: 28652255
3. Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4). PMID: 27470939
4. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. PMID: 25976310
5. Herein, we survey APTX function and the emerging cell biological, structural and biochemical data that has established a molecular foundation for understanding the APTX mediated deadenylation reaction. [review] PMID: 25637650
6. We describe an ataxia with oculomotor apraxia type 1 patient without a severe phenotype, who has a homozygous deletion of the complete coding region of APTX. PMID: 26285866
7. TDP1 and APTX take part in the mitochondrial DNA repair and are apparently being transported from the cell nucleus. (Review) PMID: 24161509
8. Structure-function studies of human APTX-RNA-DNA-AMP-Zn complexes define a mechanism for detecting and reversing adenylation at RNA-DNA junctions PMID: 24362567
9. Data suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie aprataxin dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (AOA1). PMID: 21984210
10. The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits. PMID: 21465257
11. Aprataxin is required for the normal repair rate of DNA single-strand breaks induced by genotoxic agents. PMID: 21412945
12. The patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation(APTX) show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation. PMID: 21486904
13. Aprataxin localizes to mitochondria and preserves mitochondrial function. PMID: 21502511
14. Loss of HNT3 in rad27Delta cells, which are deficient in long-patch base excision repair (LP-BER), resulted in synergistic sensitivity to H(2)O(2) and methylmethane sulfonate. PMID: 20399152
15. searched for aprataxin mutations in Greek patients with sporadic cerebellar ataxia where GAA expansion in frataxin gene has been excluded; no detectable point mutation or deletion was found in the aprataxin gene of all the patients PMID: 19953284
16. High aprataxin levels are associated with low irinotecan response in colorectal cancer. PMID: 20371676
17. Data demonstrate the presence of elevated levels of oxidative DNA damage in AOA1 cells coupled with reduced base excision and gap filling repair efficiencies indicative of a synergy between aprataxin, PARP-1, APE-1 and OGG1 in the DNA damage response. PMID: 19643912
18. Data show that the RASGRP1/APTX gene expression ratio was higher in the responder while the AKAP13 expression was higher in the non-responders. PMID: 19960345
19. The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. PMID: 12629250
20. A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T. PMID: 14534929
21. aprataxin influences the cellular response to genotoxic stress. PMID: 15044383
22. This study screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. PMID: 15164193
23. Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate with an increased severity of the disease, and a splice mutation on the acceptor splice site of exon 7 (875-1G>A (IVS7-1 G>A). PMID: 15365154
24. Aprataxin is physically associated with both the DNA single-strand and double-strand break repair machinery, raising the possibility that AOA1 is a novel DNA damage response-defective disease. PMID: 15380105
25. determined the domains of APTX and XRCC1 required for their interaction; findings suggest that APTX, together with XRCC1 and PARP-1, plays an essential role in single-strand DNA break repair PMID: 15555565
26. A novel homozygous missense mutation (H201Q) was found in one Italian patient. PMID: 15596775
27. Aprataxin was shown to be involved directly in the DNA single-strand-break repair machinery. PMID: 15719174
28. the essential function of Aprataxin is reversal of nucleotidylylated protein modifications; all three domains contribute to formation of a stable enzyme, and the in vitro behavior of cloned APTX alleles can score disease-associated mutations PMID: 15790557
29. Aprataxin has a role in the cellular response to DNA damage PMID: 16547001
30. cross-dependence between aprataxin and nucleolin in the nucleolus PMID: 16777843
31. 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene. PMID: 17049295
32. Aprataxin is critical for the processing of obstructive DNA termini. PMID: 17240329
33. May have a general proofreading function in DNA repair, removing DNA adenylates as they arise during single-strand break repair, double-strand break repair, and in base excision repair. PMID: 17276982
34. All of the disease-associated apprataxin mutants had extremely shorter half-lives than the WT. We further found that these mutants were targeted for rapid proteasome-mediated degradation PMID: 17485165
35. Aprataxin repairs DNA single-strand breaks with a unique substrate specificity toward damaged 3'-ends including 3'-phosphoglycolate and 3'-phosphate ends, and that disease-associated mutant forms of aprataxin lack this activity. PMID: 17519253
36. Expression studies by Western blotting on fibroblasts demonstrated that the homozygous Val230Gly mutation was associated with decreased levels of APTX indicating a loss-of-function mechanism. PMID: 17572444
37. We report a patient with homozygous deletion of APTX, who presented with behavioural changes (social withdrawal), and subsequent rapid progression of neurological symptoms associated with severe cognitive decline. PMID: 18202221
38. APTX is the first protein to adopt canonical histidine triad-type reaction chemistry for the repair of DNA PMID: 18836178
39. that short-patch single-strand break repair (SSBR) in AOA1 cell extracts bypasses the point of aprataxin action at oxidative breaks and stalls at the final step of DNA ligation, resulting in the accumulation of adenylated DNA nicks PMID: 19103743
40. Protein kinase C gamma, a causative for spinocerebellar ataxia, negatively regulates nuclear import of aprataxin. PMID: 19561170

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HGNC: 15984

OMIM: 208920

KEGG: hsa:54840

STRING: 9606.ENSP00000369141

UniGene: Hs.20158