Atxn1

Summary

Gene Symbol: Atxn1
Description: ataxin 1
Alias: 2900016G23Rik, Atx1, C85907, Gm10786, Sca1, ataxin-1, spinocerebellar ataxia 1 homolog
Species: mouse
Products:     Atxn1

Top Publications

  1. Clark H, Orr H. Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice. J Neuropathol Exp Neurol. 2000;59:265-70 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is one of a group of dominantly inherited neurodegenerative diseases caused by a mutant expansion of a polyglutamine-repeated sequence within the affected gene...
  2. Le Grand F, Auda Boucher G, Levitsky D, Rouaud T, Fontaine Pérus J, Gardahaut M. Endothelial cells within embryonic skeletal muscles: a potential source of myogenic progenitors. Exp Cell Res. 2004;301:232-41 pubmed
    ..The marked ability of the embryonic muscle endothelial cells to activate myogenic program could be related to their somitic origin. ..
  3. 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...
  4. DeGeorge B, Rosenberg M, Eckstein V, Gao E, Herzog N, Katus H, et al. BMP-2 and FGF-2 synergistically facilitate adoption of a cardiac phenotype in somatic bone marrow c-kit+/Sca-1+ stem cells. Clin Transl Sci. 2008;1:116-25 pubmed publisher
  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. Fryer J, Yu P, Kang H, Mandel Brehm C, Carter A, Crespo Barreto J, et al. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011;334:690-3 pubmed publisher
    ..type 1 (SCA1) is a fatal neurodegenerative disease caused by expansion of a translated CAG repeat in Ataxin-1 (ATXN1)...
  7. 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...
  8. 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)...
  9. Duvick L, Barnes J, Ebner B, Agrawal S, ANDRESEN M, Lim J, et al. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 2010;67:929-35 pubmed publisher
    ..In SCA1, phosphorylation of ATXN1 at Ser776 is thought to be key for pathogenesis...
  10. 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...

Detail Information

Publications77

  1. Clark H, Orr H. Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice. J Neuropathol Exp Neurol. 2000;59:265-70 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is one of a group of dominantly inherited neurodegenerative diseases caused by a mutant expansion of a polyglutamine-repeated sequence within the affected gene...
  2. Le Grand F, Auda Boucher G, Levitsky D, Rouaud T, Fontaine Pérus J, Gardahaut M. Endothelial cells within embryonic skeletal muscles: a potential source of myogenic progenitors. Exp Cell Res. 2004;301:232-41 pubmed
    ..The marked ability of the embryonic muscle endothelial cells to activate myogenic program could be related to their somitic origin. ..
  3. 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...
  4. DeGeorge B, Rosenberg M, Eckstein V, Gao E, Herzog N, Katus H, et al. BMP-2 and FGF-2 synergistically facilitate adoption of a cardiac phenotype in somatic bone marrow c-kit+/Sca-1+ stem cells. Clin Transl Sci. 2008;1:116-25 pubmed publisher
  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. Fryer J, Yu P, Kang H, Mandel Brehm C, Carter A, Crespo Barreto J, et al. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011;334:690-3 pubmed publisher
    ..type 1 (SCA1) is a fatal neurodegenerative disease caused by expansion of a translated CAG repeat in Ataxin-1 (ATXN1)...
  7. 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...
  8. 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)...
  9. Duvick L, Barnes J, Ebner B, Agrawal S, ANDRESEN M, Lim J, et al. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 2010;67:929-35 pubmed publisher
    ..In SCA1, phosphorylation of ATXN1 at Ser776 is thought to be key for pathogenesis...
  10. 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...
  11. Watase K, Weeber E, Xu B, Antalffy B, Yuva Paylor L, Hashimoto K, et al. A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002;34:905-19 pubmed
    To faithfully recreate the features of the human neurodegenerative disease spinocerebellar ataxia type 1 (SCA1) in the mouse, we targeted 154 CAG repeats into the endogenous mouse locus...
  12. Klement I, Skinner P, Kaytor M, Yi H, Hersch S, Clark H, et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 1998;95:41-53 pubmed
    Transgenic mice carrying the spinocerebellar ataxia type 1 (SCA1) gene, a polyglutamine neurodegenerative disorder, develop ataxia with ataxin-1 localized to aggregates within cerebellar Purkinje cells nuclei...
  13. 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...
  14. Clark H, Burright E, Yunis W, Larson S, Wilcox C, Hartman B, et al. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci. 1997;17:7385-95 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurological disorder caused by the expansion of a CAG repeat encoding a polyglutamine tract...
  15. Bowman A, Lam Y, Jafar Nejad P, Chen H, Richman R, Samaco R, et al. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007;39:373-9 pubmed
    ..1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine tract in ataxin-1 (ATXN1)...
  16. Fujita K, Nakamura Y, Oka T, Ito H, Tamura T, Tagawa K, et al. A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases. Nat Commun. 2013;4:1816 pubmed publisher
    ..Taken together, our results provide a novel common pathomechanism in multiple polyglutamine diseases that is mediated by DNA repair function of TERA/VCP/p97. ..
  17. de Chiara C, Giannini C, Adinolfi S, de Boer J, Guida S, Ramos A, et al. The AXH module: an independently folded domain common to ataxin-1 and HBP1. FEBS Lett. 2003;551:107-12 pubmed
    Ataxin-1 (ATX1), a human protein responsible for spinocerebellar ataxia type 1 in humans, shares a region of homology, named AXH module, with the apparently unrelated transcription factor HBP1...
  18. 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...
  19. Goold R, Hubank M, Hunt A, Holton J, Menon R, Revesz T, et al. Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1. Hum Mol Genet. 2007;16:2122-34 pubmed
    b>Ataxin 1 (Atxn1) is a protein of unknown function associated with spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease of late onset with variable degrees of cerebellar ataxia, ophthalmoplegia and neuropathy...
  20. Tsuda H, Jafar Nejad H, Patel A, Sun Y, Chen H, Rose M, et al. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 2005;122:633-44 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by an expanded glutamine tract in human Ataxin-1 (hAtx-1). The expansion stabilizes hAtx-1, leading to its accumulation...
  21. 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...
  22. Banfi S, Servadio A, Chung M, Capozzoli F, Duvick L, Elde R, et al. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum Mol Genet. 1996;5:33-40 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat which encodes glutamine in the novel protein ataxin-1...
  23. Lin X, Antalffy B, Kang D, Orr H, Zoghbi H. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci. 2000;3:157-63 pubmed
    The expansion of an unstable CAG repeat causes spinocerebellar ataxia type 1 (SCA1) and several other neurodegenerative diseases. How polyglutamine expansions render the resulting proteins toxic to neurons, however, remains elusive...
  24. 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...
  25. Burright E, Clark H, Servadio A, Matilla T, Feddersen R, Yunis W, et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995;82:937-48 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant inherited disorder characterized by degeneration of cerebellar Purkinje cells, spinocerebellar tracts, and selective brainstem neurons owing to the expansion of an unstable CAG ..
  26. 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...
  27. Orr H. The ins and outs of a polyglutamine neurodegenerative disease: spinocerebellar ataxia type 1 (SCA1). Neurobiol Dis. 2000;7:129-34 pubmed
    ..Spinocerebellar ataxia type 1 (SCA1) is one polyglutamine disease where various experimental model systems, in particular transgenic mice, have been ..
  28. Barnes J, Ebner B, Duvick L, Gao W, Chen G, Orr H, et al. Abnormalities in the climbing fiber-Purkinje cell circuitry contribute to neuronal dysfunction in ATXN1[82Q] mice. J Neurosci. 2011;31:12778-89 pubmed publisher
    ..the functional integrity of the excitatory cerebellar cortical circuitry in vivo from several transgenic ATXN1 mouse lines...
  29. 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...
  30. Lorenzetti D, Watase K, Xu B, Matzuk M, Orr H, Zoghbi H. Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet. 2000;9:779-85 pubmed
    To elucidate the pathophysiology of spinocerebellar ataxia type 1 (SCA1) and to evaluate repeat length instability in the context of the mouse Sca1 gene, we generated knock-in mice by inserting an expanded tract of 78 CAG repeats into the ..
  31. 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 ..
  32. GEHRKING K, Andresen J, Duvick L, Lough J, Zoghbi H, Orr H. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Hum Mol Genet. 2011;20:2204-12 pubmed publisher
    ..In SCA1, the expanded polyglutamine tract is in the ataxin-1 (ATXN1) protein...
  33. Chen K, Cruz P, Lanuto D, Flotte T, Borchelt D, Srivastava A, et al. Cellular fusion for gene delivery to SCA1 affected Purkinje neurons. Mol Cell Neurosci. 2011;47:61-70 pubmed publisher
    ..to rescue/repair at risk or degenerating PNs in the inherited ataxias, including Spinocerebellar Ataxia 1 (SCA1), by introducing therapeutic factors through BMDCs to potentially halt or reverse disease progression...
  34. Cummings C, Sun Y, Opal P, Antalffy B, Mestril R, Orr H, et al. Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet. 2001;10:1511-8 pubmed
    ..Spinocerebellar ataxia type 1 (SCA1) is one such disease, characterized by loss of motor coordination due to the degeneration of cerebellar Purkinje ..
  35. Jorgensen N, Andresen J, Pitt J, Swenson M, Zoghbi H, Orr H. Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. J Neurochem. 2007;102:2040-2048 pubmed publisher
    ..The mutation causing SCA1 is an expansion in the polyglutamine tract of the ATXN1 protein...
  36. 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 ..
  37. Skinner P, Vierra Green C, Clark H, Zoghbi H, Orr H. Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. Am J Pathol. 2001;159:905-13 pubmed
    Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by the expression of mutant ataxin-1 that contains an expanded polyglutamine tract...
  38. Brachvogel B, Pausch F, Farlie P, Gaipl U, Etich J, Zhou Z, et al. Isolated Anxa5+/Sca-1+ perivascular cells from mouse meningeal vasculature retain their perivascular phenotype in vitro and in vivo. Exp Cell Res. 2007;313:2730-43 pubmed
    ..These data demonstrate that isolated Anxa5-LacZ(+) PVC from mouse meninges retain their capacity for differentiation to pericyte-like cells and contribute to angiogenic processes. ..
  39. 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...
  40. Shiwaku H, Yoshimura N, Tamura T, Sone M, Ogishima S, Watase K, et al. Suppression of the novel ER protein Maxer by mutant ataxin-1 in Bergman glia contributes to non-cell-autonomous toxicity. EMBO J. 2010;29:2446-60 pubmed publisher
    ..Collectively, these results suggest that the reduction of Maxer mediates functional deficiency of Bergmann glia, and might contribute to the non-cell-autonomous pathology of SCA1.
  41. de Chiara C, Menon R, Pastore A. Structural bases for recognition of Anp32/LANP proteins. FEBS J. 2008;275:2548-60 pubmed publisher
    ..e. the microtubule plus-end tracking protein Clip 170/Restin, known to regulate the dynamic properties of microtubules and to be associated with severe human pathologies. ..
  42. OZ G, Kittelson E, Demirgöz D, Rainwater O, Eberly L, Orr H, et al. Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology. Neurobiol Dis. 2015;74:158-66 pubmed publisher
    Suppression of transgene expression in a conditional transgenic mouse model of spinocerebellar ataxia 1 (SCA1) reverses the Purkinje cell pathology and motor dysfunction that are hallmarks of SCA1...
  43. Nadin B, Goodell M, Hirschi K. Phenotype and hematopoietic potential of side population cells throughout embryonic development. Blood. 2003;102:2436-43 pubmed
  44. Limprasert P, Nouri N, Nopparatana C, Deininger P, Keats B. Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene. Am J Med Genet. 1997;74:488-93 pubmed
    The CAG repeat tract at the autosomal dominant spinocerebellar ataxia type 1 (SCA1) locus was analyzed in SCA1 families and French-Acadian, African-American, Caucasian, Greenland Inuit, and Thai populations...
  45. Yu A, Shibata Y, Shah B, Calamini B, Lo D, Morimoto R. Protein aggregation can inhibit clathrin-mediated endocytosis by chaperone competition. Proc Natl Acad Sci U S A. 2014;111:E1481-90 pubmed publisher
    ..The inherent properties of chaperones place them at risk, contributing to the complex pathologies of protein conformational diseases. ..
  46. Ruegsegger C, Stucki D, Steiner S, Angliker N, Radecke J, Keller E, et al. Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology. Neuron. 2016;89:129-46 pubmed publisher
    Spinocerebellar ataxia type 1 (SCA1), due to the expansion of a polyglutamine repeat within the ubiquitously expressed Ataxin-1 protein, leads to the premature degeneration of Purkinje cells (PCs), the cause of which is poorly understood...
  47. Cummings C, Reinstein E, Sun Y, Antalffy B, Jiang Y, Ciechanover A, et al. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 1999;24:879-92 pubmed
    Mutant ataxin-1, the expanded polyglutamine protein causing spinocerebellar ataxia type 1 (SCA1), aggregates in ubiquitin-positive nuclear inclusions (NI) that alter proteasome distribution in affected SCA1 patient neurons...
  48. Passman J, Dong X, Wu S, Maguire C, Hogan K, Bautch V, et al. A sonic hedgehog signaling domain in the arterial adventitia supports resident Sca1+ smooth muscle progenitor cells. Proc Natl Acad Sci U S A. 2008;105:9349-54 pubmed publisher
    ..a sonic hedgehog (Shh) signaling domain restricted to the adventitial layer of artery wall that supports resident Sca1-positive vascular progenitor cells (AdvSca1)...
  49. Suzuki N, Ohneda O, Minegishi N, Nishikawa M, Ohta T, Takahashi S, et al. Combinatorial Gata2 and Sca1 expression defines hematopoietic stem cells in the bone marrow niche. Proc Natl Acad Sci U S A. 2006;103:2202-7 pubmed
    ..We conclude that the HSC niche is composed of solitary cells and that adult bone marrow HSC are not clustered. ..
  50. 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...
  51. Jafar Nejad P, Ward C, Richman R, Orr H, Zoghbi H. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A. 2011;108:2142-7 pubmed publisher
    ..is a neurodegenerative disease caused by the expansion of a CAG repeat encoding a polyglutamine tract in Ataxin-1 (ATXN1)...
  52. Keller L, Kuchler Bopp S, Lesot H. Restoring physiological cell heterogeneity in the mesenchyme during tooth engineering. Int J Dev Biol. 2012;56:737-46 pubmed publisher
    ..Besides tissue oxygenation and its role in mineralization of dental matrices, vascularization is involved in the progressive increase in mesenchymal cell heterogeneity, by allowing external cells to enter the mesenchyme...
  53. D Souza D, Wei J, Shao Q, Hebert M, Subramony S, Vig P. Tissue transglutaminase crosslinks ataxin-1: possible role in SCA1 pathogenesis. Neurosci Lett. 2006;409:5-9 pubmed
    ..Here we show that TG2 also crosslinks spinocerebellar ataxia-1 (SCA1) gene product ataxin-1...
  54. 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...
  55. 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 ..
  56. 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 ..
  57. Pasteris N, Nagata K, Hall A, Gorski J. Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. Gene. 2000;242:237-47 pubmed
    ..We conclude that Fgd3 is a new and novel member of the FGD1 family of RhoGEF proteins. ..
  58. Fujita K, Mao Y, Uchida S, Chen X, Shiwaku H, Tamura T, et al. Developmental YAPdeltaC determines adult pathology in a model of spinocerebellar ataxia type 1. Nat Commun. 2017;8:1864 pubmed publisher
    ..YAPdeltaC during development, but not adulthood, rescued neurodegeneration phenotypes of mutant ataxin-1 knock-in (Atxn1-KI) mice...
  59. Le Roy Duflos I. Possible causal relationships between cerebellar patterns of foliation and hindlimb coordination in laboratory mice: a quantitative trait locus analysis. Behav Genet. 2001;31:29-37 pubmed
    ..Only one significant QTL was found for the measure of hindpaw coordination (Tne-1q). It was linked with Cpfd-1q and Cpfd-2q on the telomeric part of chromosome 1. ..
  60. Gennarino V, Singh R, White J, De Maio A, Han K, Kim J, et al. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. Cell. 2015;160:1087-98 pubmed publisher
    ..Breeding Pum1(+/-) mice to SCA1 mice (Atxn1(154Q/+)) exacerbated disease progression, whereas breeding them to Atxn1(+/-) mice normalized Ataxin1 levels and ..
  61. Sanchez I, Piñol P, Corral Juan M, Pandolfo M, Matilla Dueñas A. A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1. Hum Mol Genet. 2013;22:3425-37 pubmed publisher
    ..of Pp2a activity and the regulation of its holoenzyme composition, with the polyglutamine mutation within Atxn1 altering this function in the SCA1 mouse cerebellum before disease onset...
  62. Cvetanovic M, Patel J, Marti H, Kini A, Opal P. Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1. Nat Med. 2011;17:1445-7 pubmed publisher
    ..dominantly inherited neurodegenerative disease caused by expansion of a glutamine repeat tract in ataxin-1 (ATXN1). Although the precise function of ATXN1 remains elusive, it seems to be involved in transcriptional repression...
  63. Shahbazian M, Orr H, Zoghbi H. Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis. 2001;8:974-81 pubmed
    ..of a polyglutamine tract in the ataxin-1 protein beyond a critical threshold causes spinocerebellar ataxia type 1 (SCA1)...
  64. Hellenbroich Y, Kaulich M, Opitz S, Schwinger E, Zühlke C. No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3. Psychiatr Genet. 2004;14:61-3 pubmed
    ..The molecular mechanisms of repeat expansion are as yet insufficiently understood. Recently, an association of the SCA1 (CAG)31 repeat allele with Huntington's disease and myotonic dystrophy type 1 was described...
  65. Cvetanovic M, Ingram M, Orr H, Opal P. Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1. Neuroscience. 2015;289:289-99 pubmed publisher
    ..neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ataxin-1 (ATXN1)...
  66. Lasagna Reeves C, Rousseaux M, Guerrero Muñoz M, Park J, Jafar Nejad P, Richman R, et al. A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1. elife. 2015;4: pubmed publisher
    ..We found that mutant ATXN1 does form oligomers and that oligomer levels correlate with disease progression in the Atxn1(154Q/+) mice...
  67. Ito H, Fujita K, Tagawa K, Chen X, Homma H, Sasabe T, et al. HMGB1 facilitates repair of mitochondrial DNA damage and extends the lifespan of mutant ataxin-1 knock-in mice. EMBO Mol Med. 2015;7:78-101 pubmed publisher
    Mutant ataxin-1 (Atxn1), which causes spinocerebellar ataxia type 1 (SCA1), binds to and impairs the function of high-mobility group box 1 (HMGB1), a crucial nuclear protein that regulates DNA architectural changes essential for DNA ..
  68. 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
    Although expansion of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar ataxia type 1, the functions of ATXN1 and ATAXIN1-Like (ATXN1L) remain poorly understood...
  69. Seale P, Ishibashi J, Scime A, Rudnicki M. Pax7 is necessary and sufficient for the myogenic specification of CD45+:Sca1+ stem cells from injured muscle. PLoS Biol. 2004;2:E130 pubmed
    CD45(+):Sca1(+) adult stem cells isolated from uninjured muscle do not display any myogenic potential, whereas those isolated from regenerating muscle give rise to myoblasts expressing the paired-box transcription factor Pax7 and the bHLH ..
  70. Hubert L, Lin Y, Dion V, Wilson J. Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Hum Mol Genet. 2011;20:4822-30 pubmed publisher
    ..we bred an Xpa null allele, which eliminates NER, into the TNR mouse model for spinocerebellar ataxia type 1 (SCA1), which carries an expanded CAG repeat tract at the endogenous mouse Sca1 locus...
  71. Zhang Y, Goss A, Cohen E, Kadzik R, Lepore J, Muthukumaraswamy K, et al. A Gata6-Wnt pathway required for epithelial stem cell development and airway regeneration. Nat Genet. 2008;40:862-70 pubmed publisher
    ..Together, these data demonstrate that Gata6-regulated Wnt signaling controls the balance between progenitor expansion and epithelial differentiation required for both lung development and regeneration. ..
  72. Yang P, Yang W, Chen X, Kaushal S, Dong D, Shen W. Maternal diabetes and high glucose in vitro trigger Sca1+ cardiac progenitor cell apoptosis through FoxO3a. Biochem Biophys Res Commun. 2017;482:575-581 pubmed publisher
    ..Towards this goal, in the present study, we determined the effect of maternal diabetes on Sca1+ cardiac progenitor cells...
  73. Park J, Al Ramahi I, Tan Q, Mollema N, Diaz Garcia J, Gallego Flores T, et al. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013;498:325-331 pubmed publisher
    ..screens, to spinocerebellar ataxia type 1 (SCA1), a disease caused by expansion of a polyglutamine tract in ataxin 1 (ATXN1)...
  74. Keiser M, Geoghegan J, Boudreau R, Lennox K, Davidson B. RNAi or overexpression: alternative therapies for Spinocerebellar Ataxia Type 1. Neurobiol Dis. 2013;56:6-13 pubmed publisher
    Spinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant late onset neurodegenerative disease caused by an expanded polyglutamine tract in ataxin-1...