Atxn1

Summary

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

Top Publications

  1. ncbi Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes
    A Servadio
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 29:812-3. 1995
  2. ncbi Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice
    H B Clark
    Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455, USA
    J Neuropathol Exp Neurol 59:265-70. 2000
  3. ncbi Endothelial cells within embryonic skeletal muscles: a potential source of myogenic progenitors
    Fabien Le Grand
    CNRS UMR 6204, Faculte des Sciences et des Techniques, 44322 Nantes Cedex 3, France
    Exp Cell Res 301:232-41. 2004
  4. pmc Phosphorylation of ATXN1 at Ser776 in the cerebellum
    Nathan D Jorgensen
    Institute of Human Genetics, University of Minnesota, Minneapolis, 55455, USA
    J Neurochem 110:675-86. 2009
  5. pmc BMP-2 and FGF-2 synergistically facilitate adoption of a cardiac phenotype in somatic bone marrow c-kit+/Sca-1+ stem cells
    Brent R DeGeorge
    Center for Translational Medicine, Department of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 1:116-25. 2008
  6. pmc Suppression of the novel ER protein Maxer by mutant ataxin-1 in Bergman glia contributes to non-cell-autonomous toxicity
    Hiroki Shiwaku
    Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, Bunkyo ku, Tokyo, Japan
    EMBO J 29:2446-60. 2010
  7. ncbi Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
    Effat S Emamian
    Department of Laboratory Medicine and Pathology, University of Minnesota, Mayo Mail Code 206, Minneapolis, MN 55455, USA
    Neuron 38:375-87. 2003
  8. pmc Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
    Janghoo Lim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 452:713-8. 2008
  9. pmc The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7
    Jennifer R Gatchel
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 105:1291-6. 2008
  10. pmc Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis
    Juan Crespo-Barreto
    Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 6:e1001021. 2010

Research Grants

Scientific Experts

  • GULIN OZ
  • Marija Cvetanovic
  • Ivelisse Sanchez
  • H T Orr
  • Y Hellenbroich
  • I Le Roy-Duflos
  • T Takeuchi
  • Maria Gabriella Cusella De Angelis
  • Bent Brachvogel
  • Huda Y Zoghbi
  • Paymaan Jafar-Nejad
  • Lisa Duvick
  • Juan Crespo-Barreto
  • H Y Zoghbi
  • Ronald Richman
  • John D Fryer
  • Kyota Fujita
  • Hitoshi Okazawa
  • Takuya Tamura
  • Kazuhiko Tagawa
  • Kei Watase
  • Janghoo Lim
  • Lisa A Duvick
  • J Michael Andresen
  • Aaron B Bowman
  • Nathan D Jorgensen
  • H Brent Clark
  • Hikaru Ito
  • Blake A Ebner
  • Justin A Barnes
  • Yoontae Lee
  • Yan Gao
  • Hyojin Kang
  • Hiroki Shiwaku
  • Juliette J Kahle
  • Shaojuan Lai
  • Leroy Hubert
  • Jennifer R Gatchel
  • H B Clark
  • Vincent Dion
  • C J Cummings
  • Melissa Ingram
  • M Asher
  • Juliana Bosso Taniguchi
  • Céline Ruegsegger
  • Xigui Chen
  • Hidenori Homma
  • Shin Ichi Muramatsu
  • Anand Venkatraman
  • Brennon O'Callaghan
  • Tao Zu
  • Toshikazu Sasabe
  • Bertrand Perroud
  • Hyoungseok Ju
  • Yasuhiko Takechi
  • Jeehye Park
  • Timothy J Ebner
  • Laetitia Véronique Keller
  • P J Skinner
  • Masaki Sone
  • Chad A Shaw
  • KRISTIN M GEHRKING
  • K Amy Chen
  • Can Zhang
  • Scoty M Hearst
  • Seongman Kang
  • Yunfu Lin
  • John H Wilson
  • Chad Shaw
  • Juan Botas
  • A Matilla
  • Cesira de Chiara
  • Yuzhen Zhang
  • Jenna N Passman
  • Brent R DeGeorge
  • Parminder J S Vig
  • Sam Stevens
  • Rajesh P Menon
  • Robert Goold
  • Nathan J Palpant
  • Timothy A Bolger
  • Norio Suzuki
  • Hung Kai Chen
  • Chih Cheng Tsai
  • Heliane G Serra
  • D R D'Souza
  • B Antalffy
  • Akifumi Mizutani
  • Hiroshi Tsuda
  • Stuart Irwin

Detail Information

Publications83

  1. ncbi Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes
    A Servadio
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genomics 29:812-3. 1995
  2. ncbi Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice
    H B Clark
    Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis 55455, USA
    J Neuropathol Exp Neurol 59:265-70. 2000
    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...
  3. ncbi Endothelial cells within embryonic skeletal muscles: a potential source of myogenic progenitors
    Fabien Le Grand
    CNRS UMR 6204, Faculte des Sciences et des Techniques, 44322 Nantes Cedex 3, France
    Exp Cell Res 301:232-41. 2004
    ..The marked ability of the embryonic muscle endothelial cells to activate myogenic program could be related to their somitic origin...
  4. pmc Phosphorylation of ATXN1 at Ser776 in the cerebellum
    Nathan D Jorgensen
    Institute of Human Genetics, University of Minnesota, Minneapolis, 55455, USA
    J Neurochem 110:675-86. 2009
    ..Phosphorylation of ataxin-1 (ATXN1) at serine 776 is implicated in SCA1 pathogenesis...
  5. pmc BMP-2 and FGF-2 synergistically facilitate adoption of a cardiac phenotype in somatic bone marrow c-kit+/Sca-1+ stem cells
    Brent R DeGeorge
    Center for Translational Medicine, Department of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 1:116-25. 2008
    ....
  6. pmc Suppression of the novel ER protein Maxer by mutant ataxin-1 in Bergman glia contributes to non-cell-autonomous toxicity
    Hiroki Shiwaku
    Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, Bunkyo ku, Tokyo, Japan
    EMBO J 29:2446-60. 2010
    ..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.
  7. ncbi Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
    Effat S Emamian
    Department of Laboratory Medicine and Pathology, University of Minnesota, Mayo Mail Code 206, Minneapolis, MN 55455, USA
    Neuron 38:375-87. 2003
    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...
  8. pmc Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
    Janghoo Lim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 452:713-8. 2008
    ..SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine-encoding repeat in ataxin 1 (ATXN1)...
  9. pmc The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7
    Jennifer R Gatchel
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 105:1291-6. 2008
    ..In particular, spinocerebellar ataxia type 1 and 7 (SCA1 and SCA7) patients manifest cerebellar ataxia with degeneration of Purkinje cells...
  10. pmc Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis
    Juan Crespo-Barreto
    Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 6:e1001021. 2010
    ..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...
  11. ncbi Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1
    Robert Goold
    UCL Institute of Child Health, University College London, UK
    Hum Mol Genet 16:2122-34. 2007
    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...
  12. ncbi Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes
    Aaron B Bowman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 39:373-9. 2007
    ..1 (SCA1) is a dominantly inherited neurodegenerative disease caused by expansion of a glutamine tract in ataxin-1 (ATXN1)...
  13. ncbi RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice
    Heliane G Serra
    Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
    Cell 127:697-708. 2006
    ..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...
  14. ncbi The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins
    Hiroshi Tsuda
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Cell 122:633-44. 2005
    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...
  15. pmc Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1
    Akifumi Mizutani
    Department of Physiology and Biophysics, UMDNJ Robert Wood Johnson Medical School, Piscataway, NJ 08854, USA
    EMBO J 24:3339-51. 2005
    ..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...
  16. ncbi RNA association and nucleocytoplasmic shuttling by ataxin-1
    Stuart Irwin
    McMaster University, HSC 4H45, Department of Biochemistry, Hamilton, Ontario, L8N 3Z5, Canada
    J Cell Sci 118:233-42. 2005
    Spinocerebellar ataxia type 1 (SCA1) is a dominant neurodegenerative disease caused by the expression of mutant ataxin-1 containing an expanded polyglutamine tract...
  17. pmc Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua
    John D Fryer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Science 334:690-3. 2011
    ..type 1 (SCA1) is a fatal neurodegenerative disease caused by expansion of a translated CAG repeat in Ataxin-1 (ATXN1)...
  18. ncbi A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration
    Kei Watase
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 34:905-19. 2002
    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...
  19. pmc A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases
    Kyota Fujita
    Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, 1 5 45, Yushima, Bunkyo ku, Tokyo 113 8510, Japan
    Nat Commun 4:1816. 2013
    ..Taken together, our results provide a novel common pathomechanism in multiple polyglutamine diseases that is mediated by DNA repair function of TERA/VCP/p97...
  20. ncbi Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)
    S Banfi
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 5:33-40. 1996
    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...
  21. ncbi 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
    H B Clark
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 17:7385-95. 1997
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurological disorder caused by the expansion of a CAG repeat encoding a polyglutamine tract...
  22. ncbi Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures
    P J Skinner
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455, USA
    Nature 389:971-4. 1997
    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...
  23. ncbi Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation
    A Matilla
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Neurosci 18:5508-16. 1998
    Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells...
  24. ncbi Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice
    I A Klement
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455, USA
    Cell 95:41-53. 1998
    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...
  25. ncbi Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
    X Lin
    Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nat Neurosci 3:157-63. 2000
    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...
  26. ncbi SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat
    E N Burright
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455, USA
    Cell 82:937-48. 1995
    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 ..
  27. pmc SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776
    Lisa Duvick
    Institute of Translational Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA
    Neuron 67:929-35. 2010
    ..In SCA1, phosphorylation of ATXN1 at Ser776 is thought to be key for pathogenesis...
  28. ncbi The AXH module: an independently folded domain common to ataxin-1 and HBP1
    C de Chiara
    National Institute for Medical Research, The Ridgeway, NW71AA London, UK
    FEBS Lett 551:107-12. 2003
    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...
  29. ncbi RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair
    Juliana Bosso Taniguchi
    Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8510, Japan
    Hum Mol Genet . 2016
    ..tested the therapeutic effect of adeno-associated virus (AAV) vector expressing RpA1 on mutant Ataxin-1 knock-in (Atxn1-KI) mice...
  30. pmc Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways
    Melissa Ingram
    Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
    Neuron 89:1194-207. 2016
    ..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 ..
  31. doi Ataxin-1 regulates proliferation of hippocampal neural precursors
    M Asher
    Department of Neuroscience, Institute for Translational Neuroscience, University of Minnesota, 2101 6th Street SE, Minneapolis, MN 55455, United States
    Neuroscience 322:54-65. 2016
    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...
  32. ncbi Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1
    Nathan D Jorgensen
    Graduate Program in Neuroscience, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurochem 102:2040-8. 2007
    ..The mutation causing SCA1 is an expansion in the polyglutamine tract of the ATXN1 protein...
  33. pmc Cellular fusion for gene delivery to SCA1 affected Purkinje neurons
    K Amy Chen
    Department of Neuroscience, The Evelyn F and William L McKnight Brain Institute of the University of Florida, USA
    Mol Cell Neurosci 47:61-70. 2011
    ..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. doi Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology
    Céline Ruegsegger
    Institute of Cell Biology, University of Bern, Baltzerstrasse 4, CH 3012 Bern, Switzerland Graduate School for Cellular and Biomedical Sciences, University of Bern, CH 3012 Bern, Switzerland
    Neuron 89:129-46. 2016
    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...
  35. pmc Early activation of microglia and astrocytes in mouse models of spinocerebellar ataxia type 1
    M Cvetanovic
    Department of Neuroscience, University of Minnesota, 2101 6th Street SE, Minneapolis, MN 55455, United States Electronic address
    Neuroscience 289:289-99. 2015
    ..neurodegenerative disease of the cerebellum caused by a polyglutamine-repeat expansion in the protein ataxin-1 (ATXN1)...
  36. pmc Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1
    Leroy Hubert
    Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 20:4822-30. 2011
    ..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...
  37. pmc The histone deacetylase HDAC3 is essential for Purkinje cell function, potentially complicating the use of HDAC inhibitors in SCA1
    Anand Venkatraman
    Davee Department of Neurology and
    Hum Mol Genet 23:3733-45. 2014
    ..an incurable neurodegenerative disease caused by a pathogenic glutamine repeat expansion in the protein ataxin-1 (ATXN1)...
  38. pmc Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects
    Bertrand Perroud
    UC Davis Genome Center, University of California Davis, Davis, California, United States of America
    PLoS ONE 8:e70610. 2013
    We have shown that lithium treatment improves motor coordination in a spinocerebellar ataxia type 1 (SCA1) disease mouse model (Sca1(154Q/+))...
  39. pmc Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1
    Hyoungseok Ju
    Program in Cellular Neuroscience, Neurodegeneration and Repair, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Neurosci 33:9328-36. 2013
    ..in spinocerebellar ataxia type 1 (SCA1), a disease caused by a polyglutamine expansion in the protein ATAXIN1 (ATXN1)...
  40. pmc Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology
    GULIN OZ
    Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota Medical School, 2021 6th St SE, Minneapolis, MN 55455, USA Electronic address
    Neurobiol Dis 74:158-66. 2015
    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...
  41. pmc HMGB1 facilitates repair of mitochondrial DNA damage and extends the lifespan of mutant ataxin-1 knock-in mice
    Hikaru Ito
    Department of Neuropathology, Medical Research Institute, Tokyo Medical and Dental University, Bunkyo ku Tokyo, Japan
    EMBO Mol Med 7:78-101. 2014
    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 ..
  42. doi A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1
    Ivelisse Sanchez
    Basic, Translational and Molecular Neurogenetics Research Unit in Neurosciences, Health Sciences Research Institute Germans Trias y Pujol IGTP, Badalona, Barcelona, Spain
    Hum Mol Genet 22:3425-37. 2013
    ..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...
  43. ncbi The ins and outs of a polyglutamine neurodegenerative disease: spinocerebellar ataxia type 1 (SCA1)
    H T Orr
    Department of Genetics, University of Minnesota, Minneapolis, Minnesota, 55455, USA
    Neurobiol Dis 7:129-34. 2000
    ..Spinocerebellar ataxia type 1 (SCA1) is one polyglutamine disease where various experimental model systems, in particular transgenic mice, have been ..
  44. ncbi Isolated Anxa5+/Sca-1+ perivascular cells from mouse meningeal vasculature retain their perivascular phenotype in vitro and in vivo
    Bent Brachvogel
    Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany
    Exp Cell Res 313:2730-43. 2007
    ..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...
  45. ncbi The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1
    A Matilla
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 389:974-8. 1997
    Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells...
  46. doi Impairment of spinal motor neurons in spinocerebellar ataxia type 1-knock-in mice
    Yasuhiko Takechi
    Department of Orthopedic Surgery, University of Gunma Graduate School of Medicine, 3 39 22, Showa machi, Maebashi, Gunma 371 8511, Japan
    Neurosci Lett 535:67-72. 2013
    ..of cerebellar, histological and behavioral analyses has proven that SCA1-knock-in mice (in which the endogenous Atxn1 gene is replaced with mutant Atxn1 that has abnormally expanded 154 CAG repeats) work as a good tool, which ..
  47. doi Restoring physiological cell heterogeneity in the mesenchyme during tooth engineering
    Laetitia Véronique Keller
    INSERM UMR977 Biomatériaux et ingénierie Tissulaire, Strasbourg, France
    Int J Dev Biol 56:737-46. 2012
    ..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...
  48. pmc LANP mediates neuritic pathology in Spinocerebellar ataxia type 1
    Marija Cvetanovic
    Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
    Neurobiol Dis 48:526-32. 2012
    ..neurodegenerative disease that results from a pathogenic glutamine-repeat expansion in the protein ataxin-1 (ATXN1)...
  49. pmc RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1
    Jeehye Park
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 498:325-31. 2013
    ..screens, to spinocerebellar ataxia type 1 (SCA1), a disease caused by expansion of a polyglutamine tract in ataxin 1 (ATXN1)...
  50. pmc Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum
    Blake A Ebner
    Institute of Translational Neuroscience, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 33:5806-20. 2013
    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 ..
  51. ncbi The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2
    Timothy A Bolger
    Department of Pharmacology and Cancer Biology, Duke University, Durham, North Carolina 27710, USA
    J Biol Chem 282:29186-92. 2007
    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...
  52. ncbi Pro- and anti-apoptotic members of the Bcl-2 family in skeletal muscle: a distinct role for Bcl-2 in later stages of myogenesis
    J A Dominov
    Myogenesis Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Dev Dyn 220:18-26. 2001
    ..Thus, Bcl-2 function is required for particular stages of fetal and postnatal myogenesis...
  53. pmc Pax7 is necessary and sufficient for the myogenic specification of CD45+:Sca1+ stem cells from injured muscle
    Patrick Seale
    Department of Biology, McMaster University, Hamilton, Ontario, Canada
    PLoS Biol 2:E130. 2004
    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 ..
  54. ncbi Skeletal myogenic progenitors in the endothelium of lung and yolk sac
    Maria Gabriella Cusella De Angelis
    Department of Experimental Medicine, University of Pavia, Pavia, Italy
    Exp Cell Res 290:207-16. 2003
    ..The number (or potency to generate skeletal muscle) of these vessels associated cells decreases rapidly with age and is very low in mature animals, possibly correlating with reduced regenerative capacity of adult mammalian tissues...
  55. ncbi Phenotype and hematopoietic potential of side population cells throughout embryonic development
    Brian M Nadin
    Center for Cell and Gene Therapy, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Blood 102:2436-43. 2003
    ....
  56. ncbi Muscle-derived CD45-SCA-1+c-kit- progenitor cells give rise to skeletal muscle myotubes in vitro
    Cassandre L Royer
    Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    In Vitro Cell Dev Biol Anim 38:512-7. 2002
    ..Both populations possess the ability to differentiate into skeletal muscle cells in vitro...
  57. ncbi Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice
    Pamela J Skinner
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455, USA
    Neuromolecular Med 1:33-42. 2002
    Spinocerebellar ataxia type 1 (SCA1) belongs to a family of polyglutamine induced neurodegenerative disorders. Transgenic mice that overexpress a mutant allele of the SCA1 gene develop a progressive ataxia and Purkinje cell pathology...
  58. ncbi Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion
    M D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Neurobiol Dis 8:974-81. 2001
    ..of a polyglutamine tract in the ataxin-1 protein beyond a critical threshold causes spinocerebellar ataxia type 1 (SCA1)...
  59. pmc Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice
    P J Skinner
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Am J Pathol 159:905-13. 2001
    Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by the expression of mutant ataxin-1 that contains an expanded polyglutamine tract...
  60. ncbi Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
    C J Cummings
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 10:1511-8. 2001
    ..Spinocerebellar ataxia type 1 (SCA1) is one such disease, characterized by loss of motor coordination due to the degeneration of cerebellar Purkinje ..
  61. ncbi No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3
    Yorck Hellenbroich
    Institute of Human Genetics, University of Lubeck, Germany
    Psychiatr Genet 14:61-3. 2004
    ..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...
  62. ncbi Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus
    D Lorenzetti
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 9:779-85. 2000
    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 ..
  63. ncbi Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue
    N G Pasteris
    Department of Pediatrics, University of Michigan Medical School, Ann Arbor 48109 0688, USA
    Gene 242:237-47. 2000
    ..We conclude that Fgd3 is a new and novel member of the FGD1 family of RhoGEF proteins...
  64. ncbi Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice
    C J Cummings
    Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    Neuron 24:879-92. 1999
    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...
  65. ncbi Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene
    P Limprasert
    Department of Biometry and Genetics, Louisiana State University Medical Center, New Orleans 70112, USA
    Am J Med Genet 74:488-93. 1997
    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...
  66. ncbi jumonji gene maps to mouse chromosome 13
    T Takeuchi
    Mitsubishi Kasei Institute of Life Sciences, Tokyo, Japan
    Genomics 45:240-2. 1997
  67. doi SUMO-1 interacts with mutant ataxin-1 and colocalizes to its aggregates in Purkinje cells of SCA1 transgenic mice
    Seongman Kang
    Department of Biomedical Science, Korea University, Seoul, Korea
    Arch Ital Biol 148:351-63. 2010
    Spinocerebellar ataxia type 1 (SCA1) is one of several progressive neurodegenerative diseases caused by the expanded polyglutamine tract in ataxin-1, the SCA1 gene product...
  68. pmc A Gata6-Wnt pathway required for epithelial stem cell development and airway regeneration
    Yuzhen Zhang
    Department of Medicine, University of Pennsylvania, 956 BRB II III, 421 Curie Boulevard, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 40:862-70. 2008
    ..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...
  69. pmc Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein
    Can Zhang
    Department of Neurology, Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Diseases, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts 02129 2060, USA
    J Biol Chem 285:8515-26. 2010
    ..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 ..
  70. doi Structural bases for recognition of Anp32/LANP proteins
    Cesira de Chiara
    National Institute for Medical Research, The Ridgeway, London, UK
    FEBS J 275:2548-60. 2008
    ..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...
  71. pmc Dopamine D2 receptor signaling modulates mutant ataxin-1 S776 phosphorylation and aggregation
    Scoty M Hearst
    Department of Neurology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA
    J Neurochem 114:706-16. 2010
    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...
  72. pmc Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline
    Vincent Dion
    Verna and Marrs McLean Department of Biochemistry and Molecular Biology, USDA Children s Nutrition Research Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 17:1306-17. 2008
    ..deficiency in mice promoted intergenerational expansion of CAG repeats at the murine spinocerebellar ataxia type 1 (Sca1) locus...
  73. pmc Non-canonical Wnt signaling enhances differentiation of Sca1+/c-kit+ adipose-derived murine stromal vascular cells into spontaneously beating cardiac myocytes
    Nathan J Palpant
    Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48109 0622, USA
    J Mol Cell Cardiol 43:362-70. 2007
    ..capable of cardiac lineage differentiation can be enriched by selection for stem cell-specific membrane markers Sca1 and c-kit...
  74. pmc Tissue transglutaminase crosslinks ataxin-1: possible role in SCA1 pathogenesis
    D R D'Souza
    Department of Neurology, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216, USA
    Neurosci Lett 409:5-9. 2006
    ..Here we show that TG2 also crosslinks spinocerebellar ataxia-1 (SCA1) gene product ataxin-1...
  75. pmc Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration
    Paymaan Jafar-Nejad
    Department of Molecular and Human Genetics, and Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 108:2142-7. 2011
    ..is a neurodegenerative disease caused by the expansion of a CAG repeat encoding a polyglutamine tract in Ataxin-1 (ATXN1)...
  76. pmc A sonic hedgehog signaling domain in the arterial adventitia supports resident Sca1+ smooth muscle progenitor cells
    Jenna N Passman
    Carolina Cardiovascular Biology Center, University of North Carolina, Chapel Hill, NC 27599, USA
    Proc Natl Acad Sci U S A 105:9349-54. 2008
    ..a sonic hedgehog (Shh) signaling domain restricted to the adventitial layer of artery wall that supports resident Sca1-positive vascular progenitor cells (AdvSca1)...
  77. pmc Combinatorial Gata2 and Sca1 expression defines hematopoietic stem cells in the bone marrow niche
    Norio Suzuki
    Japan Science and Technology Agency JST Exploratory Research for Advanced Technology ERATO Environmental Response Project, Center for Tsukuba Advanced Research Alliance, University of Tsukuba, 1 1 1 Tennoudai, Tsukuba 305 8577, Japan
    Proc Natl Acad Sci U S A 103:2202-7. 2006
    ..We conclude that the HSC niche is composed of solitary cells and that adult bone marrow HSC are not clustered...
  78. pmc Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model
    KRISTIN M GEHRKING
    Institute of Human Genetics and Institute of Translational Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA
    Hum Mol Genet 20:2204-12. 2011
    ..In SCA1, the expanded polyglutamine tract is in the ataxin-1 (ATXN1) protein...
  79. pmc 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus
    Shaojuan Lai
    Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Biol Chem 286:34606-16. 2011
    ..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 ..
  80. pmc Abnormalities in the climbing fiber-Purkinje cell circuitry contribute to neuronal dysfunction in ATXN1[82Q] mice
    Justin A Barnes
    Department of Neuroscience, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 31:12778-89. 2011
    ..the functional integrity of the excitatory cerebellar cortical circuitry in vivo from several transgenic ATXN1 mouse lines...
  81. pmc Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1
    Marija Cvetanovic
    Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
    Nat Med 17:1445-7. 2011
    ..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...
  82. pmc ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization
    Yoontae Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Dev Cell 21:746-57. 2011
    Although expansion of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar ataxia type 1, the functions of ATXN1 and ATAXIN1-Like (ATXN1L) remain poorly understood...
  83. ncbi Possible causal relationships between cerebellar patterns of foliation and hindlimb coordination in laboratory mice: a quantitative trait locus analysis
    I Le Roy-Duflos
    FRE 2134 CNRS, Genetique, Neurogénétique, Comportement, Institut de Transgénose, CNRS, Orleans, France
    Behav Genet 31:29-37. 2001
    ..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...

Research Grants2

  1. Modulation of ataxin-1 phosphorylation
    Harry Orr; Fiscal Year: 2006
    Spinocerebeltar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by the expansion of a glutamine repeat within the SCAl-encoded protein ataxin-l...
  2. Neurochemical Correlates of Pathology in Spinocerebellar Ataxias
    GULIN OZ; Fiscal Year: 2008
    ..Pathologically and neurologically well-characterized mouse models of spinocerebellar ataxia type 1 (SCA1) will be studied. In specific aim 1, neurochemical profiles will be obtained longitudinally by high field (9...