Recombinant Mouse Ataxin-1 (Atxn1)

1. Functional impairment of YAP/YAPdeltaC by mutant Atxn1 during development determines the adult pathology of spinocerebellar ataxia type 1 by suppressing RORalpha-mediated transcription. PMID: 29192206
2. data suggest GSK3b and mTOR pathways modulate this ATXN1 function in spinocerebellar ataxia type-1 (SCA1)pathogenesis that could be targeted therapeutically prior to the onset of disease symptoms in SCA1 and other pathologies involving dysregulation of ATXN1 functions. PMID: 27466200
3. Maternal diabetes induced caspase 3-dependent apoptosis in Sca1(+) cardiac progenitor cells derived from embryonic day 17.5 (E17.5). Both maternal diabetes and high glucose in vitro activated the pro-apoptotic transcription factor, Forkhead O 3a (FoxO3a) via dephosphorylation at threonine 32 (Thr-32) residue. PMID: 27856257
4. Data establish a novel role for ATXN1 in the hippocampus as an intrinsic regulator of precursor cell proliferation, and suggest a mechanism by which polyQ expansion and loss of ATXN1 affect hippocampal function, potentially contributing to cognitive deficits and depression PMID: 26876606
5. The results of this study found that upregulation of cholecystokinin (Cck) and subsequent interaction with the Cck1 receptor likely underlies the lack of progressive Purkinje cell pathology in Pcp2-ATXN1[30Q]D776 mice. PMID: 26948890
6. Mutant ATXN1 forms oligomers whose levels correlate with disease progression in the Atxn1154Q/+ mice. PMID: 25988806
7. The study showed that Sca1(+)Lin(-) bone marrow contains an endodermal precursor population of cells that differentiates into hepatocytes. PMID: 26427852
8. HMGB1 facilitates repair of mitochondrial DNA damage of mutant ataxin-1 knock-in mice. PMID: 25510912
9. The RNA-binding protein PUMILIO1 (PUM1) not only directly regulates ATAXIN1 but also plays an unexpectedly important role in neuronal function. Loss of Pum1 caused progressive motor dysfunction and SCA1-like neurodegeneration with motor impairment, primarily by increasing Ataxin1 levels. PMID: 25768905
10. study found a new function of ataxin-1: the modulation of Pp2a activity and the regulation of its holoenzyme composition, with the polyglutamine mutation within Atxn1 altering this function in the spinocerebellar ataxia type 1 mouse cerebellum before disease onset PMID: 23630944
11. Delivery of either ataxin-1-like viral vectors to Spinocerebellar Ataxia Type 1 mice cerebella resulted in widespread cerebellar Purkinje cell transduction PMID: 23583610
12. downregulation of several components of the RAS-MAPK-MSK1 pathway decreases ATXN1 levels and suppresses neurodegeneration in mice PMID: 23719381
13. we show that ATXN1 reduces histone acetylation, a post-translational modification of histones associated with enhanced transcription, and represses histone acetyl transferase-mediated transcription. PMID: 22884877
14. Loss of ATXN1, Atxn1L and CIC is associated with hydrocephalus, omphalocele, and lung alveolarization defects. PMID: 22014525
15. The results demonstrate the preferential susceptibility of the climbing fiber circuits to the effects of ATXN1 PMID: 21900557
16. Partial Tip60 loss increased Rora and Rora-mediated gene expression and delayed ATXN1[82]-mediated cerebellar degeneration during mid-stage disease progression. PMID: 21427130
17. The results of this study showed that the SUMO-1 protein interacts with mutant ataxin-1 and colocalizes with its aggregates which suggests the involvement of the SUMO-1 system in the pathogenesis of SCA1 disease. PMID: 21308649
18. identify transcriptional changes that might result from loss of function of ATXN1 in spinocerebellar ataxia type 1 PMID: 20628574
19. This study demonstrates that a D776 substitution enhanced pathogenicity of ATXN1[82Q], revealing that an expanded polyglutamine tract and S776 phosphorylation have a synergistic effect on toxicity. PMID: 20869591
20. Taken together our data support a mechanism where PKA dependent mutant ataxin-1 phosphorylation and aggregation can be regulated by D2R/S100B signaling. PMID: 20477910
21. Results identify a novel molecule named multiple alpha-helix protein located at ER (Maxer) downregulated by mutant ataxin-1 (Atx1) in Bergmann glia. PMID: 20531390
22. ATXN1 functions as a genetic risk modifier that contributes to AD pathogenesis through a loss-of-function mechanism by regulating beta-secretase cleavage of APP and Abeta levels PMID: 20097758
23. in transgenic mice, causes spinocerebellar ataxia with Purkinje cell pathology PMID: 12025814
24. A long CAG repeat in the mouse Sca1 locus replicates human SCA1, featuring motor incoordination, cognitive deficits, wasting, and premature death, accompanied by Purkinje cell loss and age-related hippocampal synaptic dysfunction. PMID: 12086639
25. Lower-extremity skeletal muscle tissue isolated from 3- to 4-wk-old mice can yield CD45(-)Sca-1(+)c-Kit(-) (S+) cells. PMID: 12703978
26. Polyglutamine tract expansion and localization of ataxin-1 to the nucleus of Purkinje cells are not sufficient to induce disease. Serine 776 of ataxin-1 also has a critical role in SCA1 pathogenesis. PMID: 12741986
27. No association of trinucleotide repeat alles with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3. PMID: 15167689
28. Boat is an in vivo binding partner of ataxin-1 whose altered expression in Purkinje cells may contribute to their degeneration in causes spinocerebellar ataxia type 1 animals PMID: 16121196
29. These results indicate that the Atx-1/Gfi-1 interaction contributes to the selective Purkinje cell degeneration in SCA1. PMID: 16122429
30. Combinatorial Gata2 and Sca1 expression defines hematopoietic stem cells in the bone marrow niche. PMID: 16461905
31. transglutaminase type 2 crosslinks spinocerebellar ataxia-1 (SCA1) gene product ataxin-1 PMID: 17045396
32. Thus, Hsp70/Hsc70 can regulate ATXN1 levels in concert with phosphorylation of ATXN1 at S776. PMID: 17540008
33. These data demonstrate that isolated Anxa5-LacZ(+) perivascular cells from mouse meninges retain their capacity for differentiation to pericyte-like cells and contribute to angiogenic processes. PMID: 17543301
34. Non-canonical Wnt signaling enhancesa differentiation of Ataxn1 adipose-derived murine stromal vascular cells into spontaneously beating cardiac myocytes. PMID: 17706246
35. the expanded polyglutamine tract of ATXN1 differentially affects the function of the host protein in the context of different endogenous protein complexes PMID: 18337722
36. A restricted domain of Shh signaling is localized to the arterial adventitia and may play important roles in maintenance of resident vascular smooth muscle cells progenitor cells in the artery wall. PMID: 18591670

Show More

Hide All

KEGG: mmu:20238

STRING: 10090.ENSMUSP00000137439

UniGene: Mm.342683