ATXN1

Summary

Gene Symbol: ATXN1
Description: ataxin 1
Alias: ATX1, D6S504E, SCA1, ataxin-1, alternative ataxin1, spinocerebellar ataxia type 1 protein
Species: human
Products:     ATXN1

Top Publications

  1. Banfi S, Servadio A, Chung M, Kwiatkowski T, McCall A, Duvick L, et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994;7:513-20 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. In this study, we describe the identification and characterization of the gene harbouring this repeat...
  2. Orr H, Chung M, Banfi S, Kwiatkowski T, Servadio A, Beaudet A, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993;4:221-6 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1...
  3. Al Ramahi I, Lam Y, Chen H, de Gouyon B, Zhang M, Perez A, et al. CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. J Biol Chem. 2006;281:26714-24 pubmed
    ..Ataxin-1 is a polyglutamine protein whose expansion causes spinocerebellar ataxia type-1 (SCA1) and triggers the formation of nuclear inclusions (NIs)...
  4. Irwin S, Vandelft M, Pinchev D, Howell J, Graczyk J, Orr H, et al. RNA association and nucleocytoplasmic shuttling by ataxin-1. J Cell Sci. 2005;118:233-42 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is a dominant neurodegenerative disease caused by the expression of mutant ataxin-1 containing an expanded polyglutamine tract...
  5. de Chiara C, Menon R, Strom M, Gibson T, Pastore A. Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors. PLoS ONE. 2009;4:e8372 pubmed publisher
    Ataxin-1 (Atx1), a member of the polyglutamine (polyQ) expanded protein family, is responsible for spinocerebellar ataxia type 1...
  6. Lam Y, Bowman A, Jafar Nejad P, Lim J, Richman R, Fryer J, et al. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006;127:1335-47 pubmed
    ..diseases caused by expansion of a polyglutamine tract in the disease protein, in this case, ATAXIN-1 (ATXN1)...
  7. Yue S, Serra H, Zoghbi H, Orr H. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum Mol Genet. 2001;10:25-30 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by the expansion of a polyglutamine tract within the SCA1 product, ataxin-1...
  8. Tsai C, Kao H, Mitzutani A, Banayo E, Rajan H, McKeown M, et al. Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors. Proc Natl Acad Sci U S A. 2004;101:4047-52 pubmed
    b>Ataxin 1 (Atx1) is a foci-forming polyglutamine protein of unknown function, whose mutant form causes type 1 spinocerebellar ataxia in humans and exerts neurotoxicity in transgenic mouse and fly expressing mutant Atx1...
  9. de Chiara C, Menon R, Adinolfi S, de Boer J, Ktistaki E, Kelly G, et al. The AXH domain adopts alternative folds the solution structure of HBP1 AXH. Structure. 2005;13:743-53 pubmed
    ..the transcriptional repressor HBP1 and ataxin-1 (ATX1), the protein responsible for spinocerebellar ataxia type-1 (SCA1)...

More Information

Publications89

  1. Emamian E, Kaytor M, Duvick L, Zu T, Tousey S, Zoghbi H, et al. Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 2003;38:375-87 pubmed
    Polyglutamine-induced neurodegeneration in transgenic mice carrying the spinocerebellar ataxia type 1 (SCA1) gene is modulated by subcellular distribution of ataxin-1 and by components of the protein folding/degradation machinery...
  2. Stenoien D, Mielke M, Mancini M. Intranuclear ataxin1 inclusions contain both fast- and slow-exchanging components. Nat Cell Biol. 2002;4:806-10 pubmed
    ..These results redefine our perception of polyglutamine inclusions and demonstrate the usefulness of FRAP and live cell imaging to study factors that modulate their behaviour. ..
  3. Okazawa H, Rich T, Chang A, Lin X, Waragai M, Kajikawa M, et al. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron. 2002;34:701-13 pubmed
    ..Our results suggest the involvement of PQBP-1 in the pathology of spinocerebellar ataxia type 1 (SCA1) and support the idea that modified transcription underlies polyglutamine-mediated pathology.
  4. Lim J, Crespo Barreto J, Jafar Nejad P, Bowman A, Richman R, Hill D, et al. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008;452:713-8 pubmed publisher
    ..SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine-encoding repeat in ataxin 1 (ATXN1)...
  5. Servadio A, Koshy B, Armstrong D, Antalffy B, Orr H, Zoghbi H. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet. 1995;10:94-8 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat which codes for glutamine in the protein ataxin-1...
  6. Krishna N, Mohan S, Yashavantha B, Rammurthy A, Kiran Kumar H, Mittal U, et al. SCA 1, SCA 2 & SCA 3/MJD mutations in ataxia syndromes in southern India. Indian J Med Res. 2007;126:465-70 pubmed
    ..Expansions at the SCA1, 2 and 3 loci are the most frequent, but differences in their relative proportion in regions occur across the world...
  7. Al Ramahi I, Perez A, Lim J, Zhang M, Sorensen R, de Haro M, et al. dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet. 2007;3:e234 pubmed publisher
    ..SCA1 and SCA2 are two ataxias caused by expansion of polyglutamine tracts in Ataxin-1 (ATXN1) and Ataxin-2 (ATXN2), respectively, two proteins that are otherwise unrelated...
  8. Jorgensen N, Andresen J, Lagalwar S, Armstrong B, Stevens S, Byam C, et al. Phosphorylation of ATXN1 at Ser776 in the cerebellum. J Neurochem. 2009;110:675-86 pubmed publisher
    ..Phosphorylation of ataxin-1 (ATXN1) at serine 776 is implicated in SCA1 pathogenesis...
  9. Tong X, Gui H, Jin F, Heck B, Lin P, Ma J, et al. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. EMBO Rep. 2011;12:428-35 pubmed publisher
    Ataxin-1 (ATXN1), a causative factor for spinocerebellar ataxia type 1 (SCA1), and the related Brother of ATXN1 (BOAT1) are human proteins involved in transcriptional repression...
  10. Rizzi T, Arias Vasquez A, Rommelse N, Kuntsi J, Anney R, Asherson P, et al. The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. Am J Med Genet B Neuropsychiatr Genet. 2011;156:145-57 pubmed publisher
    ..Associations between intelligence and SNPs in the ATXN1 and TRIM31 genes and in three genomic locations showed replicated association, but only in the samples ascertained ..
  11. Chen Y, Allen M, Veprintsev D, Lowe J, Bycroft M. The structure of the AXH domain of spinocerebellar ataxin-1. J Biol Chem. 2004;279:3758-65 pubmed
    ..ataxia type 1 is a late-onset neurodegenerative disease caused by the expansion of a CAG triplet repeat in the SCA1 gene. This results in the lengthening of a polyglutamine tract in the gene product ataxin-1...
  12. Burright E, Davidson J, Duvick L, Koshy B, Zoghbi H, Orr H. Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum Mol Genet. 1997;6:513-8 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of a polyglutamine tract within the SCA1 gene product, ataxin-1...
  13. Rich T, Varadaraj A. Ataxin-1 fusion partners alter polyQ lethality and aggregation. PLoS ONE. 2007;2:e1014 pubmed
    ..These data show that polyQ driven aggregation can be influenced by fusion partners to generate species with different toxic properties and provide new opportunities to study IB aggregation, maturation and lethality. ..
  14. Koshy B, Matilla T, Burright E, Merry D, Fischbeck K, Orr H, et al. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum Mol Genet. 1996;5:1311-8 pubmed
    Spinocerebellar ataxia type1 (SCA1) is one of several neurodegenerative disorders caused by expansions of translated CAG trinucleotide repeats which code for polyglutamine in the respective proteins...
  15. Skinner P, Koshy B, Cummings C, Klement I, Helin K, Servadio A, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 1997;389:971-4 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is one of several neurodegenerative disorders caused by an expansion of a polyglutamine tract. It is characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells...
  16. de Chiara C, Rees M, Menon R, Pauwels K, Lawrence C, Konarev P, et al. Self-assembly and conformational heterogeneity of the AXH domain of ataxin-1: an unusual example of a chameleon fold. Biophys J. 2013;104:1304-13 pubmed publisher
  17. Matilla A, Koshy B, Cummings C, Isobe T, Orr H, Zoghbi H. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 1997;389:974-8 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells...
  18. Krol H, Krawczyk P, Bosch K, Aten J, Hol E, Reits E. Polyglutamine expansion accelerates the dynamics of ataxin-1 and does not result in aggregate formation. PLoS ONE. 2008;3:e1503 pubmed publisher
    ..The polyQ disorder SpinoCerebellar Ataxia 1 (SCA1) is caused by a polyQ-expansion in the ataxin-1 protein, which is thought to lead to nuclear aggregates...
  19. Bolger T, Zhao X, Cohen T, Tsai C, Yao T. The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2. J Biol Chem. 2007;282:29186-92 pubmed
    Ataxin-1 is a neurodegenerative disorder protein whose mutant form causes spinocerebellar ataxia type-1 (SCA1). Evidence suggests that ataxin-1 may function as a transcription repressor...
  20. Mizutani A, Wang L, Rajan H, Vig P, Alaynick W, Thaler J, et al. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. EMBO J. 2005;24:3339-51 pubmed
    ..is a neurodegenerative disorder protein whose glutamine-repeat expanded form causes spinocerebellar ataxia type 1 (SCA1) in humans and exerts cytotoxicity in Drosophila and mouse...
  21. Serra H, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, et al. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell. 2006;127:697-708 pubmed
    ..impacts SCA1, we used a conditional transgenic mouse model of SCA1 to delay the postnatal expression of mutant ATXN1 until after completion of cerebellar development...
  22. Chen H, Fernandez Funez P, Acevedo S, Lam Y, Kaytor M, Fernandez M, et al. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 2003;113:457-68 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is one of several neurological disorders caused by a CAG repeat expansion. In SCA1, this expansion produces an abnormally long polyglutamine tract in the protein ataxin-1...
  23. Klaes A, Reckziegel E, França M, Rezende T, Vedolin L, Jardim L, et al. MR Imaging in Spinocerebellar Ataxias: A Systematic Review. AJNR Am J Neuroradiol. 2016;37:1405-12 pubmed publisher
    ..After reviewing the 706 results, 18 studies were suitable for inclusion: 2 studies in SCA1, 1 in SCA2, 15 in SCA3, 1 in SCA7, 1 in SCA1 and SCA6 presymptomatic carriers, and none in SCA17 and ..
  24. Perkins E, Suminaite D, Jackson M. Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. J Physiol. 2016;594:4661-76 pubmed publisher
    ..Similar molecular mechanisms have been implicated for SCA1, 2, 3, 7, 13, 14, 19, 22, 27 and 28, highlighting alterations to intrinsic Purkinje cell activity, dendritic ..
  25. Stucki D, Ruegsegger C, Steiner S, Radecke J, Murphy M, Zuber B, et al. Mitochondrial impairments contribute to Spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ. Free Radic Biol Med. 2016;97:427-440 pubmed publisher
    Spinocerebellar ataxia type 1 (SCA1), due to an unstable polyglutamine expansion within the ubiquitously expressed Ataxin-1 protein, leads to the premature degeneration of Purkinje cells (PCs), decreasing motor coordination and causing ..
  26. Santodomingo A, Cotes Perdomo A, Foley J, Castro L. Rickettsial infection in ticks (Acari: Ixodidae) from reptiles in the Colombian Caribbean. Ticks Tick Borne Dis. 2018;9:623-628 pubmed publisher
    ..In addition, Rickettsia spp. were detected by PCR amplifying the gltA, 16S rRNA, and sca1 genes...
  27. Liu L, Cheung T, Charville G, Rando T. Isolation of skeletal muscle stem cells by fluorescence-activated cell sorting. Nat Protoc. 2015;10:1612-24 pubmed publisher
    ..is used subsequently to obtain highly pure populations of either quiescent or activated MuSCs (VCAM(+)CD31(-)CD45(-)Sca1(-)). The isolation process takes ∼5-6 h to complete...
  28. Feng L, Huang Q, Huang Z, Li H, Qi X, Wang Y, et al. Optimized Animal Model of Cyclophosphamide-induced Bone Marrow Suppression. Basic Clin Pharmacol Toxicol. 2016;119:428-435 pubmed publisher
    ..Moreover, the expression of Sca1 in bone marrow cells decreased on Day 2 but increased on Day 14...
  29. Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, et al. Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. Arch Neurol. 2012;69:500-8 pubmed publisher
    ..To evaluate disease progression and determine validity of clinical tools for therapeutic trials...
  30. Lai Y, Wang W, Yang J, Li S. Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients. J Assist Reprod Genet. 2009;26:257-61 pubmed publisher
    The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males...
  31. Li W, Lacey R, Ye Y, Lu J, Yeh K, Xiao Y, et al. Triplin, a small molecule, reveals copper ion transport in ethylene signaling from ATX1 to RAN1. PLoS Genet. 2017;13:e1006703 pubmed publisher
    ..We further showed that mutants of ANTIOXIDANT PROTEIN1 (ATX1) are hypersensitive to tiplin, but with less sensitivity comparing with the ones of ran1-1 and ran1-2...
  32. Hong S, Kim S, Ka S, Choi I, Kang S. USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product. Mol Cell Neurosci. 2002;20:298-306 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration...
  33. Landers J, Melki J, Meininger V, Glass J, van den Berg L, van Es M, et al. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009;106:9004-9 pubmed publisher
    ..These findings support the view that genetic factors modify phenotypes in this disease and that cellular motor proteins are determinants of motor neuron viability. ..
  34. Rybicka A, Eyileten C, Taciak B, Mucha J, Majchrzak K, Hellmen E, et al. Tumour-associated macrophages influence canine mammary cancer stem-like cells enhancing their pro-angiogenic properties. J Physiol Pharmacol. 2016;67:491-500 pubmed
    ..From two canine mammary tumour cell lines, CMT-U27 and P114 cancer stem-like cells were stained with Sca1, CD44 and EpCAM monoclonal antibodies and isolated...
  35. King A, Houlihan D, Kavanagh D, Haldar D, Luu N, Owen A, et al. Sphingosine-1-Phosphate Prevents Egress of Hematopoietic Stem Cells From Liver to Reduce Fibrosis. Gastroenterology. 2017;153:233-248.e16 pubmed publisher
    ..Purified (c-kit+/sca1+/lin-) HSCs were infused repeatedly into mice undergoing fibrotic liver injury...
  36. Zhao W, Wang C, Liu R, Wei C, Duan J, Liu K, et al. Effect of TGF-β1 on the Migration and Recruitment of Mesenchymal Stem Cells after Vascular Balloon Injury: Involvement of Matrix Metalloproteinase-14. Sci Rep. 2016;6:21176 pubmed publisher
    ..for expression of TGF-β1/Smad signalling pathway components, MMP-14 and MSCs markers including Nestin, CD29, and Sca1(+)CD29(+)CD11b/c(-)CD45(-). Intimal hyperplasia was reduced in SB- and rhTGF-β1-treated rats...
  37. Rousseaux M, Tschumperlin T, Lu H, Lackey E, Bondar V, Wan Y, et al. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. 2018;97:1235-1243.e5 pubmed publisher
    ..In spinocerebellar ataxia type 1 (SCA1), a gain of function of polyQ-expanded ataxin-1 (ATXN1) contributes to cerebellar pathology...
  38. Hearst S, Lopez M, Shao Q, Liu Y, Vig P. Dopamine D2 receptor signaling modulates mutant ataxin-1 S776 phosphorylation and aggregation. J Neurochem. 2010;114:706-16 pubmed publisher
    Spinocerebellar ataxia 1 (SCA1) is a dominantly inherited neurodegenerative disease associated with progressive ataxia resulting from the loss of cerebellar Purkinje cells (PCs) and neurons in the brainstem...
  39. Choi J, Ryu J, Kim H, Park S, Bae K, Kang S, et al. Co-chaperone CHIP promotes aggregation of ataxin-1. Mol Cell Neurosci. 2007;34:69-79 pubmed
    ..Our findings suggest that the role of CHIP in aggregation of polyQ proteins greatly varies depending on the context of full-length polyQ proteins...
  40. Jiang C, Li Z, Zhang L, Tian Y, Dong D, Peng Y. Significance of hyphae formation in virulence of Candida tropicalis and transcriptomic analysis of hyphal cells. Microbiol Res. 2016;192:65-72 pubmed publisher
    ..hyphae up-regulated several genes involved in morphological differentiation and oxidative response, including IF2, Atx1, and Sod2. It appears that hyphal formation plays a vital role in the pathogenicity of C...
  41. Wang X, Gao R, Sun P, Liu S, Xu Y, Liang D, et al. Proliferation, differentiation and migration of SCA1-/CD31- cardiac side population cells in vitro and in vivo. Int J Cardiol. 2017;227:378-386 pubmed publisher
    ..Studies suggest that cardiac SP (CSP) cells can be divided into SCA1+/CD31-, SCA1+/CD31+ and SCA1-/CD31- CSP ..
  42. Tuleta I, França C, Wenzel D, Fleischmann B, Nickenig G, Werner N, et al. Intermittent Hypoxia Impairs Endothelial Function in Early Preatherosclerosis. Adv Exp Med Biol. 2015;858:1-7 pubmed publisher
    ..Blood plasma CD31+/annexin V+ endothelial microparticles as well as sca1/flk1+ endothelial progenitor cells in blood and bone marrow were analyzed by flow cytometry...
  43. Sun Y, Li H, Feng Q, Li X, Yu Y, Zhou L, et al. Dysregulated miR34a/diacylglycerol kinase ζ interaction enhances T-cell activation in acquired aplastic anemia. Oncotarget. 2017;8:6142-6154 pubmed publisher
    ..Infusion of 5 × 106 miR34a-/- lymph node T cells into sublethally irradiated CB6F1 recipients led to increased Lin-Sca1+CD117+ cells and less vigorous expansion of CD8+ T cells than injection of same number of wild-type lymph node ..
  44. Guerenne L, Beurlet S, Said M, Gorombei P, le Pogam C, Guidez F, et al. GEP analysis validates high risk MDS and acute myeloid leukemia post MDS mice models and highlights novel dysregulated pathways. J Hematol Oncol. 2016;9:5 pubmed publisher
    ..We performed global specific gene expression profiling and functional pathway analysis in purified Sca1+ cells of two MDS transgenic mouse models that mimic human high-risk MDS (HR-MDS) and acute myeloid leukemia (AML) ..
  45. Ingram M, Wozniak E, Duvick L, Yang R, Bergmann P, Carson R, et al. Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways. Neuron. 2016;89:1194-1207 pubmed publisher
    ..a fatal neurodegenerative disorder, is caused by a CAG expansion encoding a polyglutamine stretch in the protein ATXN1. We used RNA sequencing to profile cerebellar gene expression in Pcp2-ATXN1[82Q] mice with ataxia and progressive ..
  46. Keo A, Aziz N, Dzyubachyk O, van der Grond J, van Roon Mom W, Lelieveldt B, et al. Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease. Front Mol Neurosci. 2017;10:399 pubmed publisher
    ..CAG) repeat expansions in the coding regions of nine polyglutamine (polyQ) genes (HTT, ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATN1, AR, and TBP) are the ..
  47. Taniguchi J, Kondo K, Fujita K, Chen X, Homma H, Sudo T, et al. RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair. Hum Mol Genet. 2016;25:4432-4447 pubmed publisher
    ..tested the therapeutic effect of adeno-associated virus (AAV) vector expressing RpA1 on mutant Ataxin-1 knock-in (Atxn1-KI) mice...
  48. Uchihara T, Takeda Y, Kobayashi T, Kasuga T, Ishikawa K, Kirei K, et al. Unexpected clinicopathological phenotype linked to small elongation of CAG repeat in SCA1 gene. J Neurol. 2006;253:396-8 pubmed
  49. Asher M, Johnson A, Zecević B, Pease D, Cvetanovic M. Ataxin-1 regulates proliferation of hippocampal neural precursors. Neuroscience. 2016;322:54-65 pubmed publisher
    Polyglutamine expansion in the protein ATAXIN-1 (ATXN1) causes spinocerebellar ataxia type 1 (SCA1), an inherited neurodegenerative disease characterized by motor deficits, cognitive impairment and depression...
  50. Riley B, Zoghbi H, Orr H. SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal. J Biol Chem. 2005;280:21942-8 pubmed
    ..Lys(16), Lys(194) preceding the polyglutamine tract, Lys(610)/Lys(697) in the C-terminal ataxin high mobility group domain, and Lys(746) all contribute to ataxin-1 SUMOylation. ..
  51. Kurosaki T, Ninokata A, Wang L, Ueda S. Evolutionary scenario for acquisition of CAG repeats in human SCA1 gene. Gene. 2006;373:23-7 pubmed
    We investigated the CAG repeat sequence of the spinocerebellar ataxia type 1 (SCA1) gene in various species of primates to reveal how human has acquired the repeat structure with interruptions...
  52. Sobczak K, Krzyzosiak W. Imperfect CAG repeats form diverse structures in SCA1 transcripts. J Biol Chem. 2004;279:41563-72 pubmed
    The expanded CAG repeat in the coding sequence of the spinocerebellar ataxia type 1 (SCA1) gene is responsible for SCA1, one of the hereditary human neurodegenerative diseases...
  53. Lai S, O Callaghan B, Zoghbi H, Orr H. 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus. J Biol Chem. 2011;286:34606-16 pubmed publisher
    ..ataxia type 1 (SCA1) is a lethal neurodegenerative disorder caused by expansion of a polyglutamine tract in ATXN1. A prominent site of pathology in SCA1 is cerebellar Purkinje neurons where mutant ATXN1 must enter the nucleus to ..
  54. Davidson J, Riley B, Burright E, Duvick L, Zoghbi H, Orr H. Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Hum Mol Genet. 2000;9:2305-12 pubmed
    Expansion of a polyglutamine tract within ataxin-1 causes spinocerebellar ataxia type 1 (SCA1). In this study, we used the yeast two-hybrid system to identify an ataxin-1-interacting protein, A1Up...
  55. Atadzhanov M, Smith D, Mwaba M, Siddiqi O, Bryer A, Greenberg L. Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families. Cerebellum Ataxias. 2017;4:17 pubmed publisher
    ..Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7...
  56. Ebner B, Ingram M, Barnes J, Duvick L, Frisch J, Clark H, et al. Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. J Neurosci. 2013;33:5806-20 pubmed publisher
    Previous studies indicate that while transgenic mice with ATXN1[30Q]-D776-induced disease share pathological features caused by ATXN1[82Q] having an expanded polyglutamine tract, they fail to manifest the age-related progressive ..
  57. Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet. 2000;8:4-18 pubmed
    ..The combined genetic and clinical information form the basis of a new classification that will aid better understanding of disease evolution, assure follow up and permit genetic counselling by the clinician. ..
  58. Lee S, Hong S, Kim S, Kang S. Ataxin-1 occupies the promoter region of E-cadherin in vivo and activates CtBP2-repressed promoter. Biochim Biophys Acta. 2011;1813:713-22 pubmed publisher
    Ataxin-1 is a polyglutamine protein of unknown function that is encoded by the ATXN1 gene in humans...
  59. Lee M, Cooray N, Maher M. The crystal structures of a copper-bound metallochaperone from Saccharomyces cerevisiae. J Inorg Biochem. 2017;177:368-374 pubmed publisher
    b>Atx1 is a metallochaperone protein from the yeast Saccharomyces cerevisiae (yAtx1) that plays a major role in copper homeostasis in this organism...
  60. Quan F, Janas J, Popovich B. A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet. 1995;4:2411-3 pubmed
  61. Fitzpatrick E, Han X, Liu W, Corcoran E, Burtenshaw D, Morrow D, et al. Alcohol Reduces Arterial Remodeling by Inhibiting Sonic Hedgehog-Stimulated Stem Cell Antigen-1 Positive Progenitor Stem Cell Expansion. Alcohol Clin Exp Res. 2017;41:2051-2065 pubmed publisher
    ..aim was to determine the effect of moderate ethanol (EtOH) on sonic hedgehog (SHh) signaling in regulating possible stem cell antigen-1 positive (Sca1+ ) progenitor stem cell involvement during pathologic arterial remodeling.
  62. Zhen T, Kwon E, Zhao L, Hsu J, Hyde R, Lu Y, et al. Chd7 deficiency delays leukemogenesis in mice induced by Cbfb-MYH11. Blood. 2017;130:2431-2442 pubmed publisher
    ..The Lin-Sca1-c-Kit+ (LK) population was significantly lower in Chd7f/fMx1-CreCbfb<..
  63. Sanchez I, Balagué E, Matilla Dueñas A. Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3?-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). Hum Mol Genet. 2016;25:4021-4040 pubmed publisher
    A polyglutamine expansion within the ataxin-1 protein (ATXN1) underlies spinocerebellar ataxia type-1 (SCA1), a neurological disorder mainly characterized by ataxia and cerebellar deficits...
  64. Calandria J, Mukherjee P, de Rivero Vaccari J, Zhu M, Petasis N, Bazan N. Ataxin-1 poly(Q)-induced proteotoxic stress and apoptosis are attenuated in neural cells by docosahexaenoic acid-derived neuroprotectin D1. J Biol Chem. 2012;287:23726-39 pubmed publisher
  65. Mitsuishi H, Kato T, Chen M, Cai L, Yako H, Higuchi M, et al. Characterization of a pituitary-tumor-derived cell line, TtT/GF, that expresses Hoechst efflux ABC transporter subfamily G2 and stem cell antigen 1. Cell Tissue Res. 2013;354:563-72 pubmed publisher
    ..The high and specific expression of stem cell antigen 1 (Sca1) in TtT/GF cells was confirmed by real-time PCR...
  66. Alluri R, Komandur S, Wagheray A, Chaudhuri J, Sitajayalakshmi -, Meena A, et al. Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis. Mol Cells. 2007;24:338-42 pubmed
    ..The sizes and distributions of repeats at the SCA1, SCA2, SCA3, SCA7 and DRPLA loci were assessed by molecular analysis of 124 unrelated ataxia patients and 44 ..
  67. Wang X, Hu Q, Nakamura Y, Lee J, Zhang G, From A, et al. The role of the sca-1+/CD31- cardiac progenitor cell population in postinfarction left ventricular remodeling. Stem Cells. 2006;24:1779-88 pubmed
    ..Sca-1(+)/CD31(-) cells may hold therapeutic possibilities with regard to the treatment of ischemic heart disease. ..
  68. Johnson N, Posluszny J, He L, Szilagyi A, Gamelli R, Shankar R, et al. Perturbed MafB/GATA1 axis after burn trauma bares the potential mechanism for immune suppression and anemia of critical illness. J Leukoc Biol. 2016;100:725-736 pubmed
    ..injury stimulated bone marrow hematopoiesis by increasing multipotential stem cell production (LinnegSca1poscKitpos), the bone marrow commitment is shifted away from the megakaryocyte erythrocyte ..
  69. du Pré B, Demkes E, Feyen D, Dierickx P, Crnko S, Kok B, et al. SCA1+ Cells from the Heart Possess a Molecular Circadian Clock and Display Circadian Oscillations in Cellular Functions. Stem Cell Reports. 2017;9:762-769 pubmed publisher
    Stem cell antigen 1-positive (SCA1+) cells (SPCs) have been investigated in cell-based cardiac repair and pharmacological research, although improved cardiac function after injection has been variable and the mode of action ..
  70. Kang A, An H, Ko J, Kang S. Ataxin-1 regulates epithelial-mesenchymal transition of cervical cancer cells. Oncotarget. 2017;8:18248-18259 pubmed publisher
    The mutant form of the protein ataxin-1 (ATXN1) causes the neurodegenerative disease spinocerebellar ataxia type-1...
  71. de Chiara C, Menon R, Kelly G, Pastore A. Protein-protein interactions as a strategy towards protein-specific drug design: the example of ataxin-1. PLoS ONE. 2013;8:e76456 pubmed publisher
    ..We propose a drug design strategy for the treatment of SCA1 that is based on the information gained from the AXH/CIC complex.
  72. Liu J, Su B. Integrated analysis supports ATXN1 as a schizophrenia risk gene. Schizophr Res. 2018;195:298-305 pubmed publisher
    ..We showed that ATXN1 was the only direct PPI partner of the know SCZ risk gene ZNF804A, and it also had direct PPIs with other 18 known ..
  73. Ganguly R, Metkari S, Bhartiya D. Dynamics of Bone Marrow VSELs and HSCs in Response to Treatment with Gonadotropin and Steroid Hormones, during Pregnancy and Evidence to Support Their Asymmetric/Symmetric Cell Divisions. Stem Cell Rev. 2018;14:110-124 pubmed publisher
    ..Differential expression of pluripotent (Oct-4A, Sox2, Nanog) and differentiation (Oct-4, Sca1, c-Kit, Ikaros) specific transcripts was studied. Basal BrdU uptake was more in both VSELs (p < 0...
  74. Fiore D, Judson R, Low M, Lee S, Zhang E, Hopkins C, et al. Pharmacological blockage of fibro/adipogenic progenitor expansion and suppression of regenerative fibrogenesis is associated with impaired skeletal muscle regeneration. Stem Cell Res. 2016;17:161-9 pubmed publisher
    ..by preventing the injury-triggered expansion and differentiation of resident CD45(-):CD31(-):?7integrin(-):Sca1(+) mesenchymal FAPs...
  75. Hong S, Lee S, Cho S, Kang S. UbcH6 interacts with and ubiquitinates the SCA1 gene product ataxin-1. Biochem Biophys Res Commun. 2008;371:256-60 pubmed publisher
    ..The expression level of UbcH6 regulated the rate of ataxin-1 degradation. This study demonstrates that UbcH6 and ataxin-1 are E2-substrate cognate pairs in the ubiquitin-proteasome system. ..
  76. Ieronimakis N, Hays A, Prasad A, Janebodin K, Duffield J, Reyes M. PDGFR? signalling promotes fibrogenic responses in collagen-producing cells in Duchenne muscular dystrophy. J Pathol. 2016;240:410-424 pubmed publisher
    ..PDGFR? is restricted to Sca1+, CD45- mesenchymal progenitors...
  77. Zhang C, Browne A, Child D, Divito J, Stevenson J, Tanzi R. Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein. J Biol Chem. 2010;285:8515-26 pubmed publisher
    ..Recently our genome-wide association screen identified four novel late onset AD candidate genes. Ataxin 1 (ATXN1) is one of these four AD candidate genes and has been indicated to be the disease gene for spinocerebellar ..
  78. Judson R, Low M, Eisner C, Rossi F. Isolation, Culture, and Differentiation of Fibro/Adipogenic Progenitors (FAPs) from Skeletal Muscle. Methods Mol Biol. 2017;1668:93-103 pubmed publisher
    ..Here, we describe a fluorescent activated cell sorting (FACS) based protocol to isolate CD31-/CD45-/Integrin-?7-/Sca1+ FAPs from murine skeletal muscle including details of tissue collection and enzymatic muscle digestion...
  79. Popova S, Slominsky P, Pocheshnova E, Balanovskaya E, Tarskaya L, Bebyakova N, et al. Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations. Eur J Hum Genet. 2001;9:829-35 pubmed
    ..loci (myotonic dystrophy (DM), dentatorubral-pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 1 (SCA1)) were examined in healthy unrelated individuals from the Siberian Yakut (Mongoloid) population, the Adygei (..
  80. Morales Hernández A, Nacarino Palma A, Moreno Marín N, Barrasa E, Paniagua Quiñones B, Catalina Fernandez I, et al. Lung regeneration after toxic injury is improved in absence of dioxin receptor. Stem Cell Res. 2017;25:61-71 pubmed publisher
    ..Increased basal content in multipotent Sca1+/CD31-/CD4- cells and in cells expressing pluripotency factors NANOG and OCT4 ..