ATN1 Antibody

1. Data indicate that the size of the expanded CAG repeats od dentatorubral-pallidoluysian atrophy protein (DRPLA) was inversely correlated with the age at onset. PMID: 27577205
2. Epigenetic regulation of ATN1 by LSD1 is required for cortical progenitor maintenance. PMID: 25519973
3. Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population. PMID: 25398822
4. These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes. PMID: 24981774
5. results suggest that expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization. PMID: 23933208
6. This study demonistrated that hypoalbuminemia in early onset DRPLA revealed the possibility of multiorgan involvement. PMID: 23263592
7. In cerebrum and cerebellum of DRPLA transgenic mouse lines at 4, 8, and 12 weeks it is demonstrated that both the number and expression levels of the altered genes are highly dependent on CAG repeat length and age in both brain regions. PMID: 22342974
8. This study demonistrated that Atn1 is response for Dentatorubral-pallidoluysian atrophy. PMID: 22083836
9. A pair of monozygotic twins is diagnosed with dentatorubro pallidoluysian atrophy, identical CAG repeats, and different clinical courses. PMID: 21749564
10. This sttudy suggested that age-dependent and CAG repeat-dependent intranuclear accumulation of mutant DRPLA leading to nuclear dysfunctions are suggested to be the essential pathophysiologic mechanisms in Dentatorubral-pallidoluysian atrophy. PMID: 21827919
11. Atrophin-1 promote neurodegeneration with autophagic hallmarks both in neuronal photoreceptors and glial cells. PMID: 20339376
12. the C-terminal fragment plays a principal role in the pathological accumulation of ATN1 in dentatorubral-pallidoluysian atrophy PMID: 20977674
13. The CAG repeat length of DRPLA may have a considerable effect on not only the disease onset but also the disease milestones and prognosis in DRPLA patients. PMID: 20589872
14. Molecular testing for dentatorubral pallidoluysian atrophy revealed abnormal "cytosine-adenine-guanosine" expansion in the atrophin-1 gene. PMID: 20196398
15. Nuclear localization of a non-caspase truncation product of this protein, with an expanded polyglutamine repeat, increases cellular toxicity. PMID: 12464607
16. DRPLA protein is a phosphoprotein, and c-Jun NH(2)-terminal kinase (JNK) is one of the major factors involved in its phosphorylation PMID: 12812981
17. The molecular architecture of CAG repeats in mutant DRPLA was studied. PMID: 15223312
18. In DRPLA, the expression ratio of two mRNA isoforms was generated by alternative splicing. The glutamine-included protein isoform was more predominantly localized in the cell nucleus. PMID: 16091834
19. mutant atropphin with polyglutamine expansion does not simply function in a dominant negative manner PMID: 16407196
20. Status epilepticus during sleep caused by an expansion of the CAG repeat in the DRPLA gene. PMID: 16534126
21. linkage and association for three CAG triplet repeat markers (Spinocerebellar Ataxia Type 1, SCA1; Machado-Joseph Disease, MJD; Dentatorubro-pallidoluysian Atrophy, DRPLA) to assess their contribution to variation in cognitive ability PMID: 16967484
22. Both Drosophila and human Brakeless and Atrophin interact in vitro. Brakeless homologs may influence the toxicity of polyglutamine-expanded Atrophin-1. PMID: 17503969
23. data suggest that a founder effect accounts for some of the high prevalence of Dentatorubral pallidoluysian and ATN1 expansion polymorphism in Wales. PMID: 17965145
24. 244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2. PMID: 18651325
25. The dentatorubral-pallidoluysian atrophy transgenic mice showed severe neurological phenotypes with progressive brain atrophy and premature death. PMID: 19039037

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HGNC: 3033

OMIM: 125370

KEGG: hsa:1822

STRING: 9606.ENSP00000349076

UniGene: Hs.143766