Cu Zn superoxide dismutase

Summary

Gene Symbol: Cu Zn superoxide dismutase
Description: superoxide dismutase 1, soluble
Alias: ALS, ALS1, IPOA, SOD, hSod1, homodimer, Cu/Zn superoxide dismutase, SOD, soluble, indophenoloxidase A, superoxide dismutase [Cu-Zn], superoxide dismutase, cystolic
Species: human

Top Publications

  1. ncbi Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    D R Rosen
    Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown 02129
    Nature 362:59-62. 1993
  2. ncbi Onset and progression in inherited ALS determined by motor neurons and microglia
    Severine Boillee
    Ludwig Institute for Cancer Research and Departments of Medicine and Neuroscience, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Science 312:1389-92. 2006
  3. pmc Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis
    Koji Yamanaka
    Ludwig Institute for Cancer Research and Department of Medicine and Neuroscience, University of California at San Diego, 9500 Gilman Drive, La Jolla, California 92093 0670, USA
    Nat Neurosci 11:251-3. 2008
  4. pmc Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
    Daryl A Bosco
    Department of Neurology, University of Massachusetts Medical Center, Worcester, Massachusetts, USA
    Nat Neurosci 13:1396-403. 2010
  5. pmc Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
    Amanda M Haidet-Phillips
    The Research Institute at Nationwide Children s Hospital, Columbus, Ohio, USA
    Nat Biotechnol 29:824-8. 2011
  6. ncbi Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    D R Rosen
    Nature 364:362. 1993
  7. doi Spinal inhibitory interneuron pathology follows motor neuron degeneration independent of glial mutant superoxide dismutase 1 expression in SOD1-ALS mice
    Mehdi Hossaini
    Department of Neuroscience, Erasmus Medical Centre, Rotterdam, The Netherlands
    J Neuropathol Exp Neurol 70:662-77. 2011
  8. doi Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS
    Bradley J Turner
    MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
    Prog Neurobiol 85:94-134. 2008
  9. doi Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells
    Maria C N Marchetto
    Laboratory of Genetics, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Cell Stem Cell 3:649-57. 2008
  10. pmc Intermolecular transmission of superoxide dismutase 1 misfolding in living cells
    Leslie I Grad
    Brain Research Centre, University of British Columbia, Vancouver, BC, Canada V6T 2B5
    Proc Natl Acad Sci U S A 108:16398-403. 2011

Detail Information

Publications312 found, 100 shown here

  1. ncbi Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    D R Rosen
    Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown 02129
    Nature 362:59-62. 1993
    Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord. Its cause is unknown and it is uniformly fatal, typically within five years...
  2. ncbi Onset and progression in inherited ALS determined by motor neurons and microglia
    Severine Boillee
    Ludwig Institute for Cancer Research and Departments of Medicine and Neuroscience, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Science 312:1389-92. 2006
    Dominant mutations in superoxide dismutase cause amyotrophic lateral sclerosis (ALS), a progressive paralytic disease characterized by loss of motor neurons...
  3. pmc Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis
    Koji Yamanaka
    Ludwig Institute for Cancer Research and Department of Medicine and Neuroscience, University of California at San Diego, 9500 Gilman Drive, La Jolla, California 92093 0670, USA
    Nat Neurosci 11:251-3. 2008
    Dominant mutations in superoxide dismutase cause amyotrophic lateral sclerosis (ALS), an adult-onset neurodegenerative disease that is characterized by the loss of motor neurons...
  4. pmc Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
    Daryl A Bosco
    Department of Neurology, University of Massachusetts Medical Center, Worcester, Massachusetts, USA
    Nat Neurosci 13:1396-403. 2010
    ..In a subset of human sporadic ALS (SALS) cases, motor neurons in the lumbosacral spinal cord were markedly C4F6 immunoreactive, indicating that an ..
  5. pmc Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
    Amanda M Haidet-Phillips
    The Research Institute at Nationwide Children s Hospital, Columbus, Ohio, USA
    Nat Biotechnol 29:824-8. 2011
    Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease, with astrocytes implicated as contributing substantially to motor neuron death in familial (F)ALS...
  6. ncbi Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    D R Rosen
    Nature 364:362. 1993
  7. doi Spinal inhibitory interneuron pathology follows motor neuron degeneration independent of glial mutant superoxide dismutase 1 expression in SOD1-ALS mice
    Mehdi Hossaini
    Department of Neuroscience, Erasmus Medical Centre, Rotterdam, The Netherlands
    J Neuropathol Exp Neurol 70:662-77. 2011
    Motor neuron degeneration and skeletal muscle denervation are hallmarks of amyotrophic lateral sclerosis (ALS), but other neuron populations and glial cells are also involved in ALS pathogenesis...
  8. doi Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS
    Bradley J Turner
    MRC Functional Genetics Unit, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
    Prog Neurobiol 85:94-134. 2008
    ..implicated in progressive motor neuron death and paralysis in one form of inherited amyotrophic lateral sclerosis (ALS)...
  9. doi Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells
    Maria C N Marchetto
    Laboratory of Genetics, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Cell Stem Cell 3:649-57. 2008
    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron death. ALS can be induced by mutations in the superoxide dismutase 1 gene (SOD1)...
  10. pmc Intermolecular transmission of superoxide dismutase 1 misfolding in living cells
    Leslie I Grad
    Brain Research Centre, University of British Columbia, Vancouver, BC, Canada V6T 2B5
    Proc Natl Acad Sci U S A 108:16398-403. 2011
    ..Expression of the enzymatically inactive, natural familial ALS SOD1 mutations G127X and G85R in human mesenchymal and neural cell lines induces misfolding of wild-type natively ..
  11. pmc Novel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patients
    Karin Forsberg
    Department of Medical Biosciences, Umea University, Umea, Sweden
    PLoS ONE 5:e11552. 2010
    Mutations in CuZn-superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS) and are found in 6% of ALS patients. Non-native and aggregation-prone forms of mutant SOD1s are thought to trigger the disease...
  12. doi The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS)
    Valeria Crippa
    Dipartimento di Endocrinologia, Fisiopatologia e Biologia Applicata Center of Excellence on Neurodegenerative Diseases, CEND, Universita degli Studi di Milano, Milano, Italy
    Hum Mol Genet 19:3440-56. 2010
    Several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), are characterized by the presence of misfolded proteins, thought to trigger neurotoxicity...
  13. ncbi Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis
    Makoto Urushitani
    Department of Anatomy and Physiology, Laval University, Centre de Recherche du Centre Hospitalier de l Universite Laval, 2705 Boulevard Laurier, Sainte Foy, Quebec G1V 4G2, Canada
    Nat Neurosci 9:108-18. 2006
    ..interact with mutant forms of superoxide dismutase (SOD1) that are linked to amyotrophic lateral sclerosis (ALS), but not with wild-type SOD1...
  14. ncbi Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice
    A M Clement
    Ludwig Institute for Cancer Research, University of California, 9500 Gilman Drive, La Jolla, CA 92093 0670, USA
    Science 302:113-7. 2003
    The most common inherited [correct] form of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting adult motor neurons, is caused by dominant mutations in the ubiquitously expressed Cu-Zn superoxide dismutase (SOD1)...
  15. pmc Mutant superoxide dismutase 1-induced IL-1beta accelerates ALS pathogenesis
    Felix Meissner
    Department of Cellular Microbiology, Max Planck Institute for Infection Biology, 10117 Berlin, Germany
    Proc Natl Acad Sci U S A 107:13046-50. 2010
    b>ALS is a fatal motor neuron disease of adult onset. Neuroinflammation contributes to ALS disease progression; however, the inflammatory trigger remains unclear...
  16. pmc Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease
    Mercedes Prudencio
    Department of Neuroscience, McKnight Brain Institute, University of Florida, Gainesville, FL, USA
    Hum Mol Genet 18:3217-26. 2009
    ..in superoxide dismutase 1 (SOD1) have been identified in patients with familial amyotrophic lateral sclerosis (ALS). The mean age of disease onset in patients inheriting mutations in SOD1 is 45-47 years of age...
  17. ncbi Monomeric Cu,Zn-superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis
    Rishi Rakhit
    Departments of Medical Biophysics and Biochemistry, University of Toronto, Toronto, Ontario M5G 2M9, Canada
    J Biol Chem 279:15499-504. 2004
    ..Here, we show that oxidative damage of wild type SOD at physiological concentrations ( approximately 40 microm) results in destabilization and aggregation in vitro...
  18. doi Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus
    Mirna Stabuc-Silih
    Eye Clinic, University Medical Centre, Ljubljana, Slovenia
    Cornea 29:172-6. 2010
    ..In recent years, several candidate genes, including VSX1 and SOD1, have been proposed and some disease-causing mutations have been identified...
  19. ncbi Induction of the unfolded protein response in familial amyotrophic lateral sclerosis and association of protein-disulfide isomerase with superoxide dismutase 1
    Julie D Atkin
    Brain Injury and Repair Group, Howard Florey Institute, University of Melbourne, Parkville, Victoria 3010, USA
    J Biol Chem 281:30152-65. 2006
    ..in Cu/Zn superoxide dismutase (SOD1) are linked to motor neuron death in familial amyotrophic lateral sclerosis (ALS) by an unclear mechanism, although misfolded SOD1 aggregates are commonly associated with disease...
  20. doi Spinal cord mRNA profile in patients with ALS: comparison with transgenic mice expressing the human SOD-1 mutant
    Daniel Offen
    Felsenstein Medical Research Center, Department of Neurology, Rabin Medical Center, Sackler School of Medicine, Tel Aviv University, Petah Tikva, 49100, Israel
    J Mol Neurosci 38:85-93. 2009
    ..Further analysis of these genes in hSOD1-G93A transgenic mice revealed increase in the expression in parallel with the deterioration of motor functions ..
  21. doi Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32
    Marzena Gajecka
    Basic Medical Sciences Program, Washington, Wyoming, Alaska, Montana, and Idaho, Washington State University, Spokane, Washington 99210 1495, USA
    Invest Ophthalmol Vis Sci 50:1531-9. 2009
    ..There is also evidence that VSX1 and SOD1 may be involved in the etiology of KTCN. The purpose of this study was to verify the available data and to identify a new keratoconus susceptibility locus...
  22. ncbi Superoxide dismutase multigene family: a comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2), and EC-SOD (SOD3) gene structures, evolution, and expression
    Igor N Zelko
    Division of Pulmonary and Critical Care, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
    Free Radic Biol Med 33:337-49. 2002
    ..SOD1, or CuZn-SOD (EC 1.15.1.1), was the first enzyme to be characterized and is a copper and zinc-containing homodimer that is found almost exclusively in intracellular cytoplasmic spaces. SOD2, or Mn-SOD (EC 1.15.1...
  23. doi Retinal ganglion cell loss in superoxide dismutase 1 deficiency
    Kenya Yuki
    Laboratory of Retinal Cell Biology, Keio University School of Medicine, Tokyo, Japan
    Invest Ophthalmol Vis Sci 52:4143-50. 2011
    To investigate the influence of deficiency in superoxide dismutase (SOD) 1, a major antioxidative enzyme, on retinal ganglion cells (RGCs).
  24. ncbi Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds
    T Ratovitski
    Department of Pathology, Johns Hopkins School of Medicine, 558 Ross Building, 720 Rutland Avenue, Baltimore, MD 21205, USA
    Hum Mol Genet 8:1451-60. 1999
    ..We conclude that the basis for the different life expectancies of patients in different kindreds of sod1-linked FALS may result from an as yet unidentified property of these mutant enzymes...
  25. pmc Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS
    Terrell E Brotherton
    Department of Neurology, Emory University, Atlanta, GA 30322, USA
    Proc Natl Acad Sci U S A 109:5505-10. 2012
    ..In spinal cords from patients with sporadic ALS, other neurodegenerative diseases, and normal controls, C4F6-immunoreactive inclusions were not detected, but the ..
  26. pmc Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis
    Laura Ferraiuolo
    Sheffield Institute for Translational Neuroscience, Department of Neuroscience, Faculty of Medicine, Dentistry and Health University of Sheffield 385A Glossop Road, Sheffield S10 2HQ, UK
    Brain 134:2627-41. 2011
    ....
  27. ncbi SOD1: a candidate gene for keratoconus
    Nitin Udar
    Jules Stein Eye Institute, University of California Los Angeles, 92868, USA
    Invest Ophthalmol Vis Sci 47:3345-51. 2006
    ..To screen superoxide dismutase 1 (SOD1) on chromosome 21 as a possible candidate gene for familial keratoconus (KC)...
  28. ncbi Restricted expression of mutant SOD1 in spinal motor neurons and interneurons induces motor neuron pathology
    Lijun Wang
    Department of Neurology MC2030, The University of Chicago Pritzker School of Medicine, 5841 S Maryland Avenue, Chicago, IL 60637, USA
    Neurobiol Dis 29:400-8. 2008
    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the selective loss of motor neurons (MNs)...
  29. doi Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form
    Aaron Kerman
    Department of Medical Biophysics, Ontario Cancer Institute, University of Toronto, and Department of Laboratory Medicine and Pathobiology, Toronto General Hospital, TMDT 4 305, 101 College Street, Toronto, ON, M5G 1L7, Canada
    Acta Neuropathol 119:335-44. 2010
    Amyotrophic lateral sclerosis (ALS) is a conformational disease in which misfolding and aggregation of proteins such as SOD1 (familial ALS) and TDP-43 (sporadic ALS) are central features...
  30. ncbi Vascular protection: superoxide dismutase isoforms in the vessel wall
    Frank M Faraci
    Department of Internal Medicine, Cardiovascular Center, University of Iowa, Carver College of Medicine, Iowa City, IA 52242 1081, USA
    Arterioscler Thromb Vasc Biol 24:1367-73. 2004
    Blood vessels express 3 isoforms of superoxide dismutase (SOD): cytosolic or copper-zinc SOD (CuZn-SOD), manganese SOD (Mn-SOD) localized in mitochondria, and an extracellular form of CuZn-SOD (EC-SOD)...
  31. ncbi Mutation of SOD1 in ALS: a gain of a loss of function
    Daniela Sau
    Institute of Endocrinology, Center of Excellence on Neurodegenerative Diseases, Division of Human Nutrition, University of Milan, Milan, Italy
    Hum Mol Genet 16:1604-18. 2007
    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by motoneuron loss...
  32. pmc Evidence for defective energy homeostasis in amyotrophic lateral sclerosis: benefit of a high-energy diet in a transgenic mouse model
    Luc Dupuis
    Laboratoire de Signalisations Moléculaires et Neurodégénérescence, Faculte de Medecine, EA3433, Universite Louis Pasteur, 11 rue Humann, 67085 Strasbourg Cedex, France
    Proc Natl Acad Sci U S A 101:11159-64. 2004
    Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease characterized by selective loss of motor neurons and progressive muscle wasting...
  33. pmc An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1
    Mercedes Prudencio
    Department of Neuroscience, McKnight Brain Institute, University of Florida, Gainesville, Florida 32610, USA
    Hum Mol Genet 19:4774-89. 2010
    ..we demonstrate that the effects of WT SOD1 on the age at which transgenic mice expressing mutant human SOD1 (hSOD1) develop paralysis are influenced by the nature of the ALS mutation and the expression levels of WT hSOD1...
  34. pmc Misfolded mutant SOD1 directly inhibits VDAC1 conductance in a mouse model of inherited ALS
    Adrian Israelson
    Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA 92093 0670, USA
    Neuron 67:575-87. 2010
    Mutations in superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis (ALS), a neurodegenerative disease characterized by loss of motor neurons...
  35. pmc Atomic structures of wild-type and thermostable mutant recombinant human Cu,Zn superoxide dismutase
    H E Parge
    Department of Molecular Biology, Scripps Research Institute, La Jolla, CA 92037
    Proc Natl Acad Sci U S A 89:6109-13. 1992
    ....
  36. ncbi Enhanced transduction of Cu,Zn-superoxide dismutase with HIV-1 Tat protein transduction domains at both termini
    Won Sik Eum
    Department of Genetic Engineering and Research Institute for Bioscience and Biotechnology, Hallym University, Chunchon 200 702, Korea
    Mol Cells 19:191-7. 2005
    ..In a previous study, we showed that Tat-Cu,Zn-superoxide dismutase (Tat-SOD) can be directly transduced into mammalian cells across the lipid membrane barrier...
  37. doi 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis
    Wendy J Broom
    Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Amyotroph Lateral Scler 9:229-37. 2008
    ..Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations...
  38. doi DJ-1 changes in G93A-SOD1 transgenic mice: implications for oxidative stress in ALS
    Nirit Lev
    Laboratory of Neurosciences, Felsenstein Medical Research Center and Department of Neurology, Rabin Medical Center Beilinson Campus, The Sackler School of Medicine, Tel Aviv University, Petah Tikva, 49100, Israel
    J Mol Neurosci 38:94-102. 2009
    Amyotrophic lateral sclerosis (ALS) is a progressive, lethal, neurodegenerative disorder. The causes of ALS are still obscure...
  39. pmc Presymptomatic biochemical changes in hindlimb muscle of G93A human Cu/Zn superoxide dismutase 1 transgenic mouse model of amyotrophic lateral sclerosis
    Kevin H J Park
    Department of Paediatrics and Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, V5Z 4H4 Canada
    Biochim Biophys Acta 1782:462-8. 2008
    ..Here we provide evidence of biochemical changes in the hindlimb muscle of young, presymptomatic G93A hSOD1 transgenic mice...
  40. ncbi Impaired extracellular secretion of mutant superoxide dismutase 1 associates with neurotoxicity in familial amyotrophic lateral sclerosis
    Bradley J Turner
    Motor Neuron Disease Research Laboratory, Brain Injury and Repair Group, Howard Florey Institute of Experimental Physiology and Medicine, University of Melbourne, Victoria 3010, Australia
    J Neurosci 25:108-17. 2005
    ..Expression of enhanced green fluorescent protein-tagged mutant human SOD1 (hSOD1-EGFP) in NSC-34 cells induced frequent cytoplasmic inclusions and protein insolubility that correlated with ..
  41. pmc Compartmentalization of superoxide dismutase 1 (SOD1G93A) aggregates determines their toxicity
    Sarah J Weisberg
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Proc Natl Acad Sci U S A 109:15811-6. 2012
    ..Preventing the accumulation of SOD1G93A in the JUNQ by enhancing its sequestration in an insoluble inclusion reduces the harmful effects of aggregation on cell viability...
  42. pmc Astrocytes carrying the superoxide dismutase 1 (SOD1G93A) mutation induce wild-type motor neuron degeneration in vivo
    Sophia T Papadeas
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Proc Natl Acad Sci U S A 108:17803-8. 2011
    ..The SOD1(G93A) astrocyte-induced MN death seemed in part mediated by host microglial activation. These findings show that mSOD1 astrocytes alone can induce WT MN death and associated pathological changes in vivo...
  43. ncbi Overexpression of superoxide dismutase 1 protects against beta-amyloid peptide toxicity: effect of estrogen and copper chelators
    Fulvio Celsi
    Fondazione Santa Lucia IRCCS, Rome, Italy
    Neurochem Int 44:25-33. 2004
    ..in Abeta-induced apoptosis in this system; (3) estrogen protects both lines, without significantly affecting SOD activity; and (4) copper chelators prevent Abeta-induced toxicity...
  44. ncbi Modification of cysteine 111 in human Cu,Zn-superoxide dismutase
    Ayako Okado-Matsumoto
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Free Radic Biol Med 41:1837-46. 2006
    Human Cu,Zn-superoxide dismutase (hSOD1) has 4 cysteines per subunit. Cys57 and Cys148 are involved in an intrasubunit disulfide bond, while Cys6 and Cys111 are free...
  45. pmc Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis
    Karin Forsberg
    Department of Medical Biosciences, Pathology, Umea University, SE 901 85, Umea, Sweden
    Acta Neuropathol 121:623-34. 2011
    The most common cause of amyotrophic lateral sclerosis (ALS) is mutations in superoxide dismutase-1 (SOD1)...
  46. doi Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients
    Per Zetterström
    Department of Medical Biosciences, Clinical Chemistry, Umea University, Umea, Sweden
    J Neurochem 117:91-9. 2011
    Several of the superoxide dismutase-1 (SOD1) mutations linked to amyotrophic lateral sclerosis (ALS) lead to synthesis of structurally defective molecules, suggesting that any cytotoxic conformational species common for all mutations ..
  47. pmc Strategies for stabilizing superoxide dismutase (SOD1), the protein destabilized in the most common form of familial amyotrophic lateral sclerosis
    Jared R Auclair
    Department of Chemistry and Rosenstiel Basic Medical Sciences Research Center, Brandeis University, 415 South Street, Waltham, MA 02454, USA
    Proc Natl Acad Sci U S A 107:21394-9. 2010
    Amyotrophic lateral sclerosis (ALS) is a disorder characterized by the death of both upper and lower motor neurons and by 3- to 5-yr median survival postdiagnosis...
  48. pmc Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis
    A Pramatarova
    Centre for Research in Neuroscience, McGill University, Montreal
    Am J Hum Genet 56:592-6. 1995
    ..Mutations in the Cu/Zn superoxide dismutase gene (SOD 1) are responsible for a fraction of familial ALS (FALS)...
  49. doi SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
    Stephanie Millecamps
    Centre de Recherche de l Institut du Cerveau et de la Moelle épinière INSERM UMR_S975, CNRS UMR7225, Universite Pierre et Marie Curie Paris 6, Hopital Pitie Salpetriere, Paris, France
    J Med Genet 47:554-60. 2010
    Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS).
  50. ncbi Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant
    H Liu
    Department of Chemistry and Biochemistry, Pasarow Mass Spectrometry Laboratory, The Neuropsychiatric Institute, University of California, Los Angeles, CA, USA
    Biochemistry 39:8125-32. 2000
    ..Furthermore, we propose that the two cysteine 111 residues, found on opposing subunits of the same dimeric enzyme, may provide a docking location for initial metal insertion during biosynthesis of wild-type CuZnSOD in vivo...
  51. doi DJ-1 forms complexes with mutant SOD1 and ameliorates its toxicity
    Satoshi Yamashita
    Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Honjo, Kumamoto, Japan
    J Neurochem 113:860-70. 2010
    Mutations in Cu/Zn superoxide dismutase (SOD1) gene cause familial amyotrophic lateral sclerosis (ALS), which could be attributed to the toxic properties of the misfolded protein, oxidative stress, and mitochondrial dysfunction...
  52. ncbi Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
    H X Deng
    Department of Neurology, Northwestern University Medical School, Chicago, IL 60611
    Science 261:1047-51. 1993
    Single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene (SOD1) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS)...
  53. doi HIV-1 Tat neurotoxicity: a model of acute and chronic exposure, and neuroprotection by gene delivery of antioxidant enzymes
    Lokesh Agrawal
    Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Neurobiol Dis 45:657-70. 2012
    ....
  54. ncbi NEDL1, a novel ubiquitin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1
    Kou Miyazaki
    Division of Biochemistry, Chiba Cancer Center Research Institute, Chiba 260 8717, Japan
    J Biol Chem 279:11327-35. 2004
    ....
  55. doi SOD1 haplotypes in familial keratoconus
    Nitin Udar
    Department of Ophthalmology, The Eye Institute, University of California Irvine, Orange, CA, USA
    Cornea 28:902-7. 2009
    ..The goal of this study was to determine if the 2 families (families A and H) shared a common haplotype by identifying closely linked new microsatellite markers flanking the SOD1 gene...
  56. ncbi Morphine modulates HIV-1 gp160-induced murine macrophage and human monocyte apoptosis by disparate ways
    Aditi A Kapasi
    Immunology and Inflammation Center, North Shore LIJ Research Institute, The Division of Kidney Disease and Hypertension, Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA
    J Neuroimmunol 148:86-96. 2004
    ..On the other hand, free radical scavengers such as superoxide dismutase (SOD), dimethylthiourea (DMTU) and catalase attenuated morphine and gp160-induced human monocyte apoptosis.
  57. doi Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis
    Biba R Stanton
    Medical Research Council Centre for Neurodegeneration Research and Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London SE5 8AF, England
    Arch Neurol 66:109-15. 2009
    The basis of heterogeneity in the clinical presentation and rate of progression of amyotrophic lateral sclerosis (ALS) is poorly understood.
  58. pmc Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS
    Saravanan Karumbayaram
    Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Dis Model Mech 2:189-95. 2009
    ..the expression of a mutant gene, superoxide dismutase 1(SOD1), linked to familial amyotrophic lateral sclerosis (ALS) in hESC-derived motor neurons...
  59. pmc Structural and dynamic aspects related to oligomerization of apo SOD1 and its mutants
    Lucia Banci
    Magnetic Resonance Center and Department of Chemistry, Fiorgen Foundation, University of Florence, Via Luigi Sacconi 6, 50019 Sesto Fiorentino, Italy
    Proc Natl Acad Sci U S A 106:6980-5. 2009
    ..The present results suggest that the investigation of the solution state coupled with that of the crystal state can provide major insights into SOD1 pathway toward oligomerization in relation to fALS...
  60. pmc Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS
    Celeste M Karch
    Department of Neuroscience, McKnight Brain Institute, University of Florida, Gainesville, FL 32610 0235, USA
    Proc Natl Acad Sci U S A 106:7774-9. 2009
    Transgenic mice that model familial (f)ALS, caused by mutations in superoxide dismutase (SOD)1, develop paralysis with pathology that includes the accumulation of aggregated forms of the mutant protein...
  61. ncbi Oxidative stress and metal content in blood and cerebrospinal fluid of amyotrophic lateral sclerosis patients with and without a Cu, Zn-superoxide dismutase mutation
    Yuetsu Ihara
    Clinical Research Institute and Department of Neurology, National Hospital Organization Minami Okayama Medical Center, 4066 Hayashima Cho, Tsukubo Gun, Okayama 701 0304, Japan
    Neurol Res 27:105-8. 2005
    Hydroxyl radical, ascorbate free radical, superoxide dismutase (SOD) activities, Cu,Zn-SOD protein, Mn-SOD protein, 8-hydroxy-2' -deoxyguanosine (8-OHdG) and metals were compared in red blood cells (RBC), plasma and/or cerebrospinal ..
  62. ncbi Disulfide bond mediates aggregation, toxicity, and ubiquitylation of familial amyotrophic lateral sclerosis-linked mutant SOD1
    Jun ichi Niwa
    Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8500, Japan
    J Biol Chem 282:28087-95. 2007
    Mutations in the Cu/Zn-superoxide dismutase (SOD1) gene cause familial amyotrophic lateral sclerosis (ALS) through the gain of a toxic function; however, the nature of this toxic function remains largely unknown...
  63. ncbi Tumor necrosis factor-alpha down-regulates human Cu/Zn superoxide dismutase 1 promoter via JNK/AP-1 signaling pathway
    Valéry Afonso
    INSERM U606, Lariboisiere Hospital, Paris, France
    Free Radic Biol Med 41:709-21. 2006
    ..A greater understanding of the mechanisms of TNF-alpha-induced SOD1 repression could facilitate the design and development of novel therapeutic drugs for inflammatory conditions...
  64. ncbi Bicarbonate-dependent peroxidase activity of human Cu,Zn-superoxide dismutase induces covalent aggregation of protein: intermediacy of tryptophan-derived oxidation products
    Hao Zhang
    Biophysics Research Institute and Free Radical Research Center, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    J Biol Chem 278:24078-89. 2003
    ..HCO3--dependent peroxidase activity and covalent aggregation of hSOD1WT were mimicked by UV photolysis of hSOD1-WT in the presence of a [Co(NH3)5CO3]+ complex that generates the carbonate radical anion (CO3.)...
  65. ncbi Expression of SOD1 G93A or wild-type SOD1 in primary cultures of astrocytes down-regulates the glutamate transporter GLT-1: lack of involvement of oxidative stress
    Massimo Tortarolo
    Biochemical Neuropharmacology Group, GKT Centre for Neuroscience Research, King s College London, Guy s Hospital Campus, London, UK
    J Neurochem 88:481-93. 2004
    ..We transfected primary mouse astrocytes to investigate the effect of the FALS-linked mutant hSOD1(G93A) and wild-type SOD1 (hSOD1wt) on the glutamate uptake system...
  66. doi The endoplasmic reticulum-Golgi pathway is a target for translocation and aggregation of mutant superoxide dismutase linked to ALS
    Makoto Urushitani
    Research Centre of Centre Hospitallier Université de Québec, Department of Anatomy and Physiology, Laval University, Laurier, Quebec, QC, G1V4G2, Canada
    FASEB J 22:2476-87. 2008
    Mutations in superoxide dismutase 1 (SOD1) are responsible for 20% cases of familial amyotrophic lateral sclerosis (ALS). However, the mechanism of motor neuron degeneration caused by ALS-linked SOD1 mutants is not fully understood...
  67. pmc Superoxide dismutase 1 (SOD1) is essential for H2O2-mediated oxidation and inactivation of phosphatases in growth factor signaling
    Jose C Juarez
    Attenuon, LLC, San Diego, CA 92121, USA
    Proc Natl Acad Sci U S A 105:7147-52. 2008
    ..These results identify SOD1 as a master regulator of GF signaling and as a therapeutic target for the inhibition of angiogenesis and tumor growth...
  68. ncbi Superoxide dismutase inhibits the expression of vascular cell adhesion molecule-1 and intracellular cell adhesion molecule-1 induced by tumor necrosis factor-alpha in human endothelial cells through the JNK/p38 pathways
    Shing Jong Lin
    Institute of Clinical Medicine, Cardiovascular Research Center, National Yang Ming University, Taiwan, Republic of China
    Arterioscler Thromb Vasc Biol 25:334-40. 2005
    ..We tried to study possible effects of Cu/Zn superoxide dismutase (SOD) on adhesion molecule expression and its underlying mechanism in the prevention and treatment of cardiovascular ..
  69. ncbi Mutated human SOD1 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice
    Marina Mattiazzi
    Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, New York 10021, USA
    J Biol Chem 277:29626-33. 2002
    ..in the pathogenesis of ALS, we studied mitochondria from transgenic mice expressing wild type and G93A mutated hSOD1. We found that a significant proportion of enzymatically active SOD1 was localized in the intermembrane space of ..
  70. pmc Toxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons
    Christian S Lobsiger
    Ludwig Institute and Department of Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 104:7319-26. 2007
    Global, age-dependent changes in gene expression from rodent models of inherited ALS caused by dominant mutations in superoxide-dismutase 1 (SOD1) were identified by using gene arrays and RNAs isolated from purified embryonic and adult ..
  71. ncbi Antioxidant enzyme gene delivery to protect from HIV-1 gp120-induced neuronal apoptosis
    L Agrawal
    Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, 1020 Locust Street, Philadelphia, PA 19107, USA
    Gene Ther 13:1645-56. 2006
    ..Thus, SOD1 and GPx1 can be delivered by SV40 vectors in vitro or in vivo. This approach may merit consideration for therapies in HIV-1-induced encephalopathy...
  72. ncbi Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
    Ian R A Mackenzie
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
    Ann Neurol 61:427-34. 2007
    Amyotrophic lateral sclerosis (ALS) is a common, fatal motor neuron disorder with no effective treatment...
  73. pmc Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse
    Lijun Wang
    Department of Neurology, The University of Chicago Pritzker School of Medicine, IL 60637, USA
    Hum Mol Genet 18:1642-51. 2009
    Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS), and approximately 25% of FALS cases are caused by mutations in Cu/Zn superoxide dismutase type 1 (SOD1)...
  74. ncbi 9,10-Phenanthraquinone in diesel exhaust particles downregulates Cu,Zn-SOD and HO-1 in human pulmonary epithelial cells: intracellular iron scavenger 1,10-phenanthroline affords protection against apoptosis
    Rika Sugimoto
    Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1 1 1 Tennodai, Tsukuba, Ibaraki 305 8575, Japan
    Free Radic Biol Med 38:388-95. 2005
    ..cells with 10-20 microM PQ for 12 h specifically down-regulated protein levels of Cu,Zn-superoxide dismutase (Cu,Zn-SOD) and heme oxygenase-1 (HO-1) by more than 50%...
  75. pmc Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis
    Timothy M Miller
    Ludwig Institute for Cancer Research, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 103:19546-51. 2006
    Amyotrophic lateral sclerosis (ALS) is a fatal, progressive paralysis arising from the premature death of motor neurons. An inherited form is caused by a dominant mutation in the ubiquitously expressed superoxide dismutase (SOD1)...
  76. ncbi Metalation of the amyotrophic lateral sclerosis mutant glycine 37 to arginine superoxide dismutase (SOD1) apoprotein restores its structural and dynamical properties in solution to those of metalated wild-type SOD1
    Lucia Banci
    Magnetic Resonance Center, University of Florence, Via Luigi Sacconi 6, 50019 Sesto Fiorentino, Italy
    Biochemistry 46:9953-62. 2007
    ..These results suggest further that it is the metal-free apo forms of the mutant SOD1 protein that are the agents of its toxicity...
  77. ncbi Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS
    M Aoki
    Department of Neurology, Tohoku, University School of Medicine, Sendai, Japan
    J Neurol Sci 126:77-83. 1994
    ..We identified a novel point mutation A to G in exon 2 of the Cu/Zn SOD gene, resulting in an amino acid substitution of histidine46 by arginine (H46R), in two Japanese familial ALS (FALS)..
  78. ncbi Novel mutations that enhance or repress the aggregation potential of SOD1
    Uma Krishnan
    Department of Neurology, University of Texas, Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, Texas, 75390, USA
    Mol Cell Biochem 287:201-11. 2006
    ..These results demonstrate that various mutations have different effects on SOD1 aggregation potential and that the H80G mutation appears to uniquely act as a dominant inhibitor of SOD1 aggregation...
  79. pmc Colocalization of 14-3-3 proteins with SOD1 in Lewy body-like hyaline inclusions in familial amyotrophic lateral sclerosis cases and the animal model
    Yoko Okamoto
    Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan
    PLoS ONE 6:e20427. 2011
    ..inclusions inside the anterior horn cells of spinal cords with sporadic amyotrophic lateral sclerosis (ALS)...
  80. ncbi Human SOD1 before harboring the catalytic metal: solution structure of copper-depleted, disulfide-reduced form
    Lucia Banci
    Magnetic Resonance Center, University of Florence, Via Luigi Sacconi 6, 50019 Sesto Fiorentino, Florence, Italy
    J Biol Chem 281:2333-7. 2006
    ..The structure allows us to further discuss the copper loading mechanism in SOD1...
  81. ncbi Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria
    Piera Pasinelli
    Day Laboratory for Neuromuscular Research, Department of Neurology, Harvard Medical School, Mass General Institute for Neurodegenerative Disease, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Neuron 43:19-30. 2004
    Familial amyotrophic lateral sclerosis (ALS)-linked mutations in the copper-zinc superoxide dismutase (SOD1) gene cause motor neuron death in about 3% of ALS cases...
  82. doi DJ-1 modulates the expression of Cu/Zn-superoxide dismutase-1 through the Erk1/2-Elk1 pathway in neuroprotection
    Zhiquan Wang
    Laboratory of Neurodegenerative Diseases, Institute of Health Science, Shanghai Institutes for Biological Sciences, Chinese Academy of Science and Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Ann Neurol 70:591-9. 2011
    ..However, the mechanisms underlying dopaminergic neuron loss related to DJ-1 mutation remain undefined. Therefore, it is important to find the new mechanisms underlying the antioxidative functions of DJ-1...
  83. doi Superoxide dismutase 1 mutants related to amyotrophic lateral sclerosis induce endoplasmic stress in neuro2a cells
    Yeo Kyoung Oh
    Department of Molecular Biology, Sejong University, Seoul, Korea
    J Neurochem 104:993-1005. 2008
    ..In amyotrophic lateral sclerosis (ALS) of both sporadic and familial forms, protein aggregates are found in the affected spinal cords...
  84. doi Derlin-1 overexpression ameliorates mutant SOD1-induced endoplasmic reticulum stress by reducing mutant SOD1 accumulation
    Akira Mori
    Department of Neurology, Faculty of Life Sciences, Kumamoto University, 1 1 1 Honjo, Kumamoto 860 8556, Japan
    Neurochem Int 58:344-53. 2011
    ..sensor kinases, chaperones, and apoptotic mediators, are involved in the familial amyotrophic lateral sclerosis (ALS) model related to mutant Cu/Zn superoxide dismutase (SOD1) and sporadic ALS...
  85. pmc Differential corticospinal tract degeneration in homozygous 'D90A' SOD-1 ALS and sporadic ALS
    C R V Blain
    Department of Clinical Neuroscience, King s College London, Institute of Psychiatry, London, UK
    J Neurol Neurosurg Psychiatry 82:843-9. 2011
    The homogeneous genotype and stereotyped phenotype of a unique familial form of amyotrophic lateral sclerosis (ALS) (patients homozygous for aspartate-to-alanine mutations in codon 90 (homD90A) superoxide dismutase 1) provides an ideal ..
  86. pmc Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria
    Han Xiang Deng
    Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Tarry Building, Room 13 715, 303 East Chicago Avenue, Chicago, IL 60611, USA
    Proc Natl Acad Sci U S A 103:7142-7. 2006
    Twenty percent of the familial form of amyotrophic lateral sclerosis (ALS) is caused by mutations in the Cu, Zn-superoxide dismutase gene (SOD1) through the gain of a toxic function...
  87. ncbi Aberrant neuronal and mitochondrial proteins in hippocampus of transgenic mice overexpressing human Cu/Zn superoxide dismutase 1
    Joo Ho Shin
    Department of Pediatrics, University of Vienna, A 1090, Vienna, Austria
    Free Radic Biol Med 37:643-53. 2004
    ..This observation is of relevance to understanding brain deficits in Down syndrome, as SOD1 is encoded on chromosome 21...
  88. pmc ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2
    Steve Pedrini
    Frances and Joseph Weinberg Unit for ALS Research, Farber Institute for Neurosciences, Department of Neuroscience, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Hum Mol Genet 19:2974-86. 2010
    In mutant superoxide dismutase (SOD1)-linked amyotrophic lateral sclerosis (ALS), accumulation of misfolded mutant SOD1 in spinal cord mitochondria is thought to cause mitochondrial dysfunction...
  89. doi The human G93A-superoxide dismutase-1 mutation, mitochondrial glutathione and apoptotic cell death
    H Muyderman
    Centre for Neuroscience and Department of Medical Biochemistry, School of Medicine, Flinders University, GPO Box 2100, Adelaide, SA 5001, Australia
    Neurochem Res 34:1847-56. 2009
    ..dismutase are a cause of motor neuron death in about 20% of cases of familial amyotrophic lateral sclerosis (ALS)...
  90. ncbi "True" sporadic ALS associated with a novel SOD-1 mutation
    Michael D Alexander
    Department of Neurology, Beaumont Hospital, Beaumont Road, Dublin 9, Ireland
    Ann Neurol 52:680-3. 2002
    Mutations in the Cu/Zn superoxide dismutase gene (SOD-1) are reported in 20% of familial amyotrophic lateral sclerosis (ALS) cases, but no definite report of a mutation in a "truly" sporadic case of ALS has been proved...
  91. doi Evidence from computer simulations for alterations in the membrane biophysical properties and dendritic processing of synaptic inputs in mutant superoxide dismutase-1 motoneurons
    Sherif M Elbasiouny
    Department of Physiology, Northwestern University, Chicago, Illinois 60611, USA
    J Neurosci 30:5544-58. 2010
    A critical step in improving our understanding of the development of amyotrophic lateral sclerosis (ALS) is to identify the factors contributing to the alterations in the excitability of motoneurons and assess their individual ..
  92. pmc Amyotrophic lateral sclerosis-linked mutant SOD1 sequesters Hu antigen R (HuR) and TIA-1-related protein (TIAR): implications for impaired post-transcriptional regulation of vascular endothelial growth factor
    Liang Lu
    Department of Neurology, University of Alabama at Birmingham and the Birmingham Veterans Affairs Medical Center, Birmingham, Alabama 35294, USA
    J Biol Chem 284:33989-98. 2009
    ..mouse leads to progressive and selective degeneration of motor neurons similar to amyotrophic lateral sclerosis (ALS)...
  93. ncbi The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase
    R L Casareno
    Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 273:23625-8. 1998
    ..Our findings therefore reveal a common mechanism whereby different SOD1 FALS mutants may result in neuronal injury and suggest a novel therapeutic approach in patients affected by this fatal disease...
  94. ncbi Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis
    J Kawamata
    Department of Neurology, Faculty of Medicine, Kyoto University, Japan
    Hum Mutat 9:356-8. 1997
  95. ncbi Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish
    Robin Lemmens
    Department of Neurology, University Hospital Gasthuisberg, K U Leuven, Belgium
    Hum Mol Genet 16:2359-65. 2007
    ..We have investigated the zebrafish as a model to study amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder characterized by the selective loss of motor neurons, caused by mutations in ..
  96. ncbi Lack of association between polymorphisms of catalase, copper-zinc superoxide dismutase (SOD), extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus
    O Ukkola
    Department of Internal Medicine and Biocenter Oulu, University of Oulu, Finland
    J Intern Med 249:451-9. 2001
    ..the polymorphisms of three different antioxidative enzyme - catalase, copper-zinc superoxide dismutase (Cu/ Zn-SOD) and extracellular superoxide dismutase (EC-SOD) - genes and macroangiopathy was examined in patients with type 2 ..
  97. ncbi Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses
    Takako Sato
    Department of Neurology D4, Osaka University Graduate School of Medicine, 2 2 Yamada oka, Suita, Osaka 565 0871, Japan
    J Neurol Sci 218:79-83. 2004
    Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. The majority of patients are sporadic cases, while 5-10% of the patients have a family history of ALS (fALS)...
  98. pmc Cysteine 111 affects aggregation and cytotoxicity of mutant Cu,Zn-superoxide dismutase associated with familial amyotrophic lateral sclerosis
    Mauro Cozzolino
    Laboratory of Neurochemistry, Fondazione S Lucia Istituto di Ricovero e Cura a Carattere Scientifico, Rome 00179, Italy
    J Biol Chem 283:866-74. 2008
    ..These data are consistent with the view that the redox environment influences the oligomerization/aggregation pathway of mutSOD1 and point to Cys-111 as a key mediator of this process...
  99. ncbi Clinical characteristics of familial amyotrophic lateral sclerosis with a Phe20Cys mutation in the SOD1 gene in a Korean family
    Hyun Young Kim
    Department of Neurology, College of Medicine, Hanyang University, Seoul
    Amyotroph Lateral Scler 8:73-8. 2007
    ..Five exons of the Cu/Zn SOD gene were analyzed by polymerase chain reaction...
  100. ncbi Truncated wild-type SOD1 and FALS-linked mutant SOD1 cause neural cell death in the chick embryo spinal cord
    Ghanashyam D Ghadge
    Department of Neurology MC2030, The University of Chicago Pritzker School of Medicine, 5841 S Maryland Avenue, Chicago, IL 60637, USA
    Neurobiol Dis 21:194-205. 2006
    Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial (FALS), and approximately 25% of FALS cases are caused by mutations in superoxide dismutase-1 (SOD1)...
  101. ncbi A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy
    Kourosh Rezania
    Department of Neurology, The University of Chicago, 5841 S Maryland Ave MC2030, Chicago, IL 60637, USA
    Amyotroph Lateral Scler Other Motor Neuron Disord 4:162-6. 2003
    ..The incomplete disease penetrance seen with this mutation (and others reported in the literature) emphasizes the potential value for obtaining an SOD1 genotype in patients with ALS, even if there is no apparent family history.

Research Grants68

  1. Ca Signaling in Progression of Amyotrophic Lateral Sclerosis in Skeletal Muscle
    Jingsong Zhou; Fiscal Year: 2010
    Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disorder involving degeneration of motor neurons and atrophy of skeletal muscle...
  2. SUPEROXIDE DISMUTASE STRUCTURES AND LOU GEHRIGS DISEASE
    John Tainer; Fiscal Year: 2001
    DESCRIPTION: (applicant's abstract) The metalloenzyme Cu,Zn superoxide dismutase (SOD) is a master eukaryotic regulator of reactive oxygen species within cells by dismutating superoxide anions into peroxide and oxygen...
  3. SUPEROXIDE DISMUTASE STRUCTURES AND LOU GEHRIGS DISEASE
    JOHN A contact TAINER; Fiscal Year: 2010
    Cu,Zn superoxide dismutase (SOD) mutations can cause Familial Amyotrophic Lateral Sclerosis (FALS), an inherited variety of ALS (or Lou Gehrig's disease), the most common human motor neuron disease...
  4. The Effects of PP2A on TNF Signaling and Smoke-Induced Lung Injury
    Robert F Foronjy; Fiscal Year: 2010
    ..This proposal will advance public health by determining how PP2A, the primary eukaryotic serine/threonine phosphatase, alters the injurious responses to cigarette smoke exposure in the lung. ..
  5. NITRIC OXIDE/SUPEROXIDE IN LIPID VASCULAR DISEASE
    ZVONIMIR KATUSIC; Fiscal Year: 2001
    ..Superoxide anions are scavenged by SOD. This project was designed to determine the role of NO and superoxide in cholesterol-induced vasomotor dysfunction ..
  6. EXTRACELLULAR SUPEROXIDE DISMUTASE IN PULMONARY FIBROSIS
    Tim Oury; Fiscal Year: 2003
    ..The antioxidant enzyme extracellular superoxide dismutase (EC-SOD) is found in high concentrations in association with type I collagen in the lung...
  7. CHONDROPROTECTIVE EFFECTS OF SUPEROXIDE DISMUTASE
    Constance Chu; Fiscal Year: 2002
    ..Exploratory studies using extracelluar superoxide dismutase (EC-SOD) knock-out and transgenic mice originally developed for evaluating the pathogenesis of pulmonary fibrosis to ..
  8. Reactive Oxygen Species Signaling in the Hippocampus
    Eric Klann; Fiscal Year: 2010
    ..have found that scavenging mitochondrial superoxide by overexpression of mitochondrial superoxide dismutase (SOD-2) can prevent the aforementioned abnormalities...
  9. Superoxide Dismutase, Peroxynitrite and ALS
    Joseph S Beckman; Fiscal Year: 2010
    ..The discovery in 1993 of dominant mutations to Cu,Zn-superoxide dismutase (Cu,Zn-SOD) linked to 2-7% of ALS cases led to hopes that new treatments for ALS based on antioxidants might be forthcoming...
  10. STRUCTURE AND REDESIGN OF CU-ZN SUPEROXIDE DISMUTASE
    John Tainer; Fiscal Year: 1993
    ..for folding, stability, metal binding, and reactivity of proteins and general and of Cu,Zn superoxide dismutase (SOD) specifically, we propose the renewal of our integrated program of SOD redesign, biochemical characterization, ..
  11. Folding and Aggregation Mechanisms of Human Cu,Zn Superoxide Dismutase
    C Robert Matthews; Fiscal Year: 2010
    ..Tragically, mutations at dozens of positions in SOD1 cause amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease...
  12. SUPEROXIDE DISMUTASE--A NOVEL TARGET FOR CANCER THERAPY
    Peng Huang; Fiscal Year: 2004
    DESCRIPTION: Superoxide dismutases (SOD) are a class of essential enzymes responsible for the elimination of the toxic free radical, superoxide (O2-), and thus protect cells from oxidative stress...
  13. HYDROXYNONENAL MODIFICATION OF SUPEROXIDE DISMUTASE
    Kenneth Hensley; Fiscal Year: 2002
    ..of decreased distance between a key pair of lysine residues (Lys-9) in the interfacial region of the SOD1 homodimer, and that this reaction leads to protein aggregation and metal release from the enzyme...
  14. REGULATION OF EXTRACELLULAR SUPEROXIDE DISMUTASE BY PROT
    Russell Bowler; Fiscal Year: 2004
    ..Extracellular superoxide dismutase (EC-SOD) is the primary extracellular antioxidant enzyme; it is uniquely abundant in lung tissue and in vessel walls...