ataxin 1

Summary

Gene Symbol: ataxin 1
Description: ataxin 1
Alias: Sca1, ataxin-1, spinocerebellar ataxia 1, spinocerebellar ataxia type 1 protein homolog
Species: rat
Products:     ataxin 1

Top Publications

  1. 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)...
  2. 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...
  3. Matilla A, Roberson E, Banfi S, Morales J, Armstrong D, Burright E, et al. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci. 1998;18:5508-16 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells...
  4. Gatchel J, Watase K, Thaller C, Carson J, Jafar Nejad P, Shaw C, et al. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008;105:1291-6 pubmed publisher
    ..In particular, spinocerebellar ataxia type 1 and 7 (SCA1 and SCA7) patients manifest cerebellar ataxia with degeneration of Purkinje cells...
  5. 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...
  6. Gossen M, Schmitt I, Obst K, Wahle P, Epplen J, Riess O. cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene. Hum Mol Genet. 1996;5:381-9 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by an expanded and unstable (CAG) > 40 repeat within a gene of unknown function...
  7. Parfitt D, Michael G, Vermeulen E, Prodromou N, Webb T, Gallo J, et al. The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Hum Mol Genet. 2009;18:1556-65 pubmed publisher
    ..Thus, sacsin is an ataxia protein and a regulator of the Hsp70 chaperone machinery that is implicated in the processing of other ataxia-linked proteins. ..
  8. Cvetanovic M, Rooney R, Garcia J, Toporovskaya N, Zoghbi H, Opal P. The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. EMBO Rep. 2007;8:671-7 pubmed
    ..As LANP interacts with ataxin 1--a protein mutated in the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1)--we tested whether ..
  9. Chen J, Liu J, An J. [Expressions of Sca-1, CD24 and Muc1 in quiescent mammary glands of female rats]. Nan Fang Yi Ke Da Xue Xue Bao. 2007;27:488-91 pubmed
    ..This study provides some morphological evidences for identifying these cells, but they still need further verifications in cellular transplantation experiments. ..

Scientific Experts

More Information

Publications20

  1. 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)...
  2. 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...
  3. Hong S, Ka S, Kim S, Park Y, Kang S. p80 coilin, a coiled body-specific protein, interacts with ataxin-1, the SCA1 gene product. Biochim Biophys Acta. 2003;1638:35-42 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration...
  4. 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...
  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. 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...
  7. 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...
  8. Crespo Barreto J, Fryer J, Shaw C, Orr H, Zoghbi H. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010;6:e1001021 pubmed publisher
    ..ATXN1 enhances SCA1 pathogenesis, whereas increased levels of an evolutionarily conserved paralog of ATXN1, Ataxin 1-Like, ameliorate it. These data suggest that a partial loss of ATXN1 function contributes to SCA1...
  9. Lee Y, Fryer J, Kang H, Crespo Barreto J, Bowman A, Gao Y, et al. ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell. 2011;21:746-57 pubmed publisher
    ..These findings demonstrate a critical role of ATXN1/ATXN1L-CIC complexes in extracellular matrix (ECM) remodeling during development and their potential roles in pathogenesis of disorders affecting ECM remodeling...
  10. Guo L, Giasson B, Glavis Bloom A, Brewer M, Shorter J, Gitler A, et al. A cellular system that degrades misfolded proteins and protects against neurodegeneration. Mol Cell. 2014;55:15-30 pubmed publisher
    ..We further show that PML deficiency exacerbates polyglutamine (polyQ) disease in a mouse model of spinocerebellar ataxia 1 (SCA1)...
  11. Ogawa S, Aikawa S, Kato T, Tomizawa K, Tsukamura H, Maeda K, et al. Prominent expression of spinocerebellar ataxia type-1 (SCA1) gene encoding ataxin-1 in LH-producing cells, LbetaT2. J Reprod Dev. 2004;50:557-63 pubmed
    ..Most clones were the spinocerebellar ataxia type-1 (SCA1) gene encoding ataxin-1, the abnormality of which causes neurodegeneration and loss of cerebellar Purkinje cells...