Citations for
1SCN3A, SOD1
Mutant SOD1 protein increases Nav1.3 channel excitability.
Kubat Öktem E, Mruk K, Chang J, Akin A, Kobertz WR, Brown RH Jr.
J Biol Phys 42(3):351-70. doi: 10.1007/s10867-016-9411-x. Epub 2016 Apr 12. Erratum in: J Biol Phys. 2016 Jun;42(3):371. 2016
2HDAC6, SOD1
HDAC6 regulates mutant SOD1 aggregation through two SMIR motifs and tubulin acetylation.
Gal J, Chen J, Barnett KR, Yang L, Brumley E, Zhu H.
J Biol Chem 288(21):15035-45. doi: 10.1074/jbc.M112.431957. Epub 2013 Apr 11. 2013
3ALS1, SOD1
Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1.
Pickles S, Destroismaisons L, Peyrard SL, Cadot S, Rouleau GA, Brown RH Jr, Julien JP, Arbour N, Vande Velde C.
Hum Mol Genet 22(19):3947-59. doi: 10.1093/hmg/ddt249. Epub 2013 Jun 4. 2013
4DERL1, SOD1
SOD1 as a molecular switch for initiating the homeostatic ER stress response under zinc deficiency.
Homma K, Fujisawa T, Tsuburaya N, Yamaguchi N, Kadowaki H, Takeda K, Nishitoh H, Matsuzawa A, Naguro I, Ichijo H.
Mol Cell 52(1):75-86. doi: 10.1016/j.molcel.2013.08.038. Epub 2013 Sep 26. 2013
5ALS1, SOD1
Disulfide scrambling describes the oligomer formation of superoxide dismutase (SOD1) proteins in the familial form of amyotrophic lateral sclerosis.
Toichi K, Yamanaka K, Furukawa Y.
J Biol Chem 288(7):4970-80. doi: 10.1074/jbc.M112.414235. Epub 2012 Dec 21. 2013
6CCS, SOD1
Human copper chaperone for superoxide dismutase 1 mediates its own oxidation-dependent import into mitochondria.
Suzuki Y, Ali M, Fischer M, Riemer J.
Nat Commun 4:2430. doi: 10.1038/ncomms3430. 2013
7GLI1, PTCH1, SOD1
Inhibition of sonic hedgehog signaling aggravates brain damage associated with the down-regulation of Gli1, Ptch1 and SOD1 expression in acute ischemic stroke.
Ji H, Miao J, Zhang X, Du Y, Liu H, Li S, Li L.
Neurosci Lett 506(1):1-6. doi: 10.1016/j.neulet.2011.11.027. Epub 2011 Nov 25. 2012
8CCS, SOD1
Human superoxide dismutase 1 (hSOD1) maturation through interaction with human copper chaperone for SOD1 (hCCS).
Banci L, Bertini I, Cantini F, Kozyreva T, Massagni C, Palumaa P, Rubino JT, Zovo K.
Proc Natl Acad Sci U S A 109(34):13555-60. doi: 10.1073/pnas.1207493109. Epub 2012 Aug 6. 2012
9MTRNR2L1, SOD1
Humanin protects cortical neurons from ischemia and reperfusion injury by the increased activity of superoxide dismutase.
Zhao ST, Huang XT, Zhang C, Ke Y.
Neurochem Res 37(1):153-60. doi: 10.1007/s11064-011-0593-0. 2012
10SOD1
Retinal ganglion cell loss in superoxide dismutase 1 deficiency.
Yuki K, Ozawa Y, Yoshida T, Kurihara T, Hirasawa M, Ozeki N, Shiba D, Noda K, Ishida S, Tsubota K.
Invest Ophthalmol Vis Sci. 52(7):4143-50. 2011
11BDNF, NTRK2, SOD1
The in vivo contribution of motor neuron TrkB receptors to mutant SOD1 motor neuron disease.
Zhai J, Zhou W, Li J, Hayworth CR, Zhang L, Misawa H, Klein R, Scherer SS, Balice-Gordon RJ, Kalb RG.
Hum Mol Genet. 20(21):4116-31 2011
12ALS1, CCS, SOD1
Effect of CCS on the accumulation of FALS SOD1 mutant-containing aggregates and on mitochondrial translocation of SOD1 mutants: implication of a free radical hypothesis.
Kim HK, Chung YW, Chock PB, Yim MB.
Arch Biochem Biophys 509(2):177-85. doi: 10.1016/j.abb.2011.02.014. Epub 2011 Feb 24. 2011
13ALS1, SOD1
Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice.
Wong M, Martin LJ.
Hum Mol Genet 19(11):2284-302. Epub 2010 Mar 10.PMID: 20223753 2010
14ALS1, SOD1
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
Furukawa Y, Kaneko K, Yamanaka K, Nukina N.
J Biol Chem 285(29):22221-31. Epub 2010 Apr 19.PMID: 20404329 2010
15ALS1, ALS10, ALS6, ALS8, ALS9, ANG, FUS, SOD1, TARDBP, VAPB
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.
J Med Genet 47(8):554-60. Epub 2010 Jun 24.PMID: 20577002 2010
16ALS1, BCL2, SOD1
ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.
Pedrini S, Sau D, Guareschi S, Bogush M, Brown RH Jr, Naniche N, Kia A, Trotti D, Pasinelli P.
Hum Mol Genet 19(15):2974-86. Epub 2010 May 11.PMID: 20460269 2010
17ALS1, SOD1
A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.
Birve A, Neuwirth C, Weber M, Marklund SL, Nilsson AC, Jonsson PA, Andersen PM.
Hum Mol Genet 19(21):4201-6. Epub 2010 Aug 13. 2010
18ALS1, SOD1
Deficits in axonal transport precede ALS symptoms in vivo.
Bilsland LG, Sahai E, Kelly G, Golding M, Greensmith L, Schiavo G.
Proc Natl Acad Sci U S A 107(47):20523-8. Epub 2010 Nov 8. 2010
19ALS1, SOD1
ALS-linked mutant superoxide dismutase 1 (SOD1) alters mitochondrial protein composition and decreases protein import.
Li Q, Vande Velde C, Israelson A, Xie J, Bailey AO, Dong MQ, Chun SJ, Roy T, Winer L, Yates JR, Capaldi RA, Cleveland DW, Miller TM.
Proc Natl Acad Sci U S A 107(49):21146-51. Epub 2010 Nov 15. 2010
20SOD1
The Arabidopsis DJ-1a protein confers stress protection through cytosolic SOD activation.
Xu XM, Lin H, Maple J, Björkblom B, Alves G, Larsen JP, Møller SG.
J Cell Sci. 123(Pt 10):1644-51. 2010
21SOD1, SOD2, SOD3
Generation and characterization of cells that can be conditionally depleted of mitochondrial SOD2.
Takada S, Inoue E, Tano K, Yoshii H, Abe T, Yoshimura A, Akita M, Tada S, Watanabe M, Seki M, Enomoto T.
Biochem Biophys Res Commun 379(2):233-8. Epub 2008 Dec 25. 2009
22ALS1, SOD1
SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis.
Wicks P, Abrahams S, Papps B, Al-Chalabi A, Shaw CE, Leigh PN, Goldstein LH.
J Neurol 256(2):234-41. Epub 2009 Mar 1. 2009
23SOD1
Expression of amyotrophic lateral sclerosis-linked SOD1 mutant increases the neurotoxic potential of microglia via TLR2
Liu Y, Hao W, Dawson A, Liu S, Fassbender K.
J Biol Chem. 284(6):3691-9 2009
24ALS1, SOD1
Functional features cause misfolding of the ALS-provoking enzyme SOD1.
Nordlund A, Leinartaite L, Saraboji K, Aisenbrey C, Gröbner G, Zetterström P, Danielsson J, Logan DT, Oliveberg M.
Proc Natl Acad Sci U S A 106(24):9667-72. Epub 2009 Jun 2. 2009
25ALS1, SOD1
Familial amyotrophic lateral sclerosis-linked mutant SOD1 aberrantly interacts with tubulin.
Kabuta T, Kinugawa A, Tsuchiya Y, Kabuta C, Setsuie R, Tateno M, Araki T, Wada K.
Biochem Biophys Res Commun 387(1):121-6. Epub 2009 Jul 1.PMID: 19576169 2009
26ALS1, SOD1
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
Prudencio M, Hart PJ, Borchelt DR, Andersen PM.
Hum Mol Genet 18(17):3217-26. Epub 2009 May 30.PMID: 19483195 2009
27AMFR, ATXN3, SOD1
Gp78, an ER associated E3, promotes SOD1 and ataxin-3 degradation.
Ying Z, Wang H, Fan H, Zhu X, Zhou J, Fei E, Wang G.
Hum Mol Genet 18(22):4268-81. Epub 2009 Aug 6.PMID: 19661182 2009
28CCS, SOD1
The right to choose: multiple pathways for activating copper,zinc superoxide dismutase.
Leitch JM, Yick PJ, Culotta VC.
J Biol Chem 284(37):24679-83. Epub 2009 Jul 8. Review.PMID: 19586921 2009
29SOD1
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
Yonashiro R, Sugiura A, Miyachi M, Fukuda T, Matsushita N, Inatome R, Ogata Y, Suzuki T, Dohmae N, Yanagi S.
Mol Biol Cell. 20(21):4524-30. 2009
30SOD1
Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.
Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Baranowska I, Long S, March PA, Olby NJ, Shelton GD, Khan S, O'Brien DP, Lindblad-Toh K, Coates JR.
Proc Natl Acad Sci U S A. 106(8):2794-9. 2009
31SOD1
Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3.
Tateno M, Kato S, Sakurai T, Nukina N, Takahashi R, Araki T.
Hum Mol Genet. 18(5):942-55 2009
32SOD1
Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis.
Cheroni C, Marino M, Tortarolo M, Veglianese P, De Biasi S, Fontana E, Zuccarello LV, Maynard CJ, Dantuma NP, Bendotti C.
Hum Mol Genet. 18(1):82-96. 2009
33SOD1
Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse.
Wang L, Deng HX, Grisotti G, Zhai H, Siddique T, Roos RP.
Hum Mol Genet. 18(9):1642-51. 2009
34ALS1, SOD1
Complete loss of post-translational modifications triggers fibrillar aggregation of SOD1 in the familial form of amyotrophic lateral sclerosis.
Furukawa Y, Kaneko K, Yamanaka K, O'Halloran TV, Nukina N.
J Biol Chem 283(35):24167-76. Epub 2008 Jun 13. 2008
35ALS1, ASK1, SOD1
ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1.
Nishitoh H, Kadowaki H, Nagai A, Maruyama T, Yokota T, Fukutomi H, Noguchi T, Matsuzawa A, Takeda K, Ichijo H.
Genes Dev 22(11):1451-64. 2008
36ALS1, SOD1
ALS-causing SOD1 mutants generate vascular changes prior to motor neuron degeneration.
Zhong Z, Deane R, Ali Z, Parisi M, Shapovalov Y, O'Banion MK, Stojanovic K, Sagare A, Boillee S, Cleveland DW, Zlokovic BV.
Nat Neurosci 11(4):420-2. Epub 2008 Mar 16. 2008
37KARS, SDCBP, SOD1
Lysyl-tRNA synthetase is a target for mutant SOD1 toxicity in mitochondria.
Kawamata H, Magrané J, Kunst C, King MP, Manfredi G.
J Biol Chem 283(42):28321-8. Epub 2008 Aug 20. 2008
38ALS1, SOD1
SOD1 mutations disrupt redox-sensitive Rac regulation of NADPH oxidase in a familial ALS model.
Harraz MM, Marden JJ, Zhou W, Zhang Y, Williams A, Sharov VS, Nelson K, Luo M, Paulson H, Schöneich C, Engelhardt JF.
J Clin Invest 118(2):659-70.PMID: 1821939 2008
39CCS, SOD1
Different regulation of wild-type and mutant Cu,Zn superoxide dismutase localization in mammalian mitochondria.
Kawamata H, Manfredi G.
Hum Mol Genet 17(21):3303-17. Epub 2008 Aug 13.PMID: 18703498 2008
40ALS1, SOD1
Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: a clinical and neuropathological study.
Suzuki M, Irie T, Watanabe T, Mikami H, Yamazaki T, Oyanagi K, Ono S.
J Neurol Sci 268(1-2):140-4. Epub 2008 Jan 14.PMID: 18191946 2008
41ALS1,SOD1
Disease-associated mutations at copper ligand histidine residues of superoxide dismutase 1 diminish the binding of copper and compromise dimer stability.
Wang J, Caruano-Yzermans A, Rodriguez A, Scheurmann JP, Slunt HH, Cao X, Gitlin J, Hart PJ, Borchelt DR.
J Biol Chem 282(1):345-52. Epub 2006 Nov 8. 2007
42ALS1,SOD1
Mutation of SOD1 in ALS: a gain of a loss of function.
Sau D, De Biasi S, Vitellaro-Zuccarello L, Riso P, Guarnieri S, Porrini M, Simeoni S, Crippa V, Onesto E, Palazzolo I, Rusmini P, Bolzoni E, Bendotti C, Poletti A.
Hum Mol Genet 16(13):1604-18. Epub 2007 May 15. 2007
43SOD1
Common molecular signature in SOD1 for both sporadic and familial amyotrophic lateral sclerosis.
Gruzman A, Wood WL, Alpert E, Prasad MD, Miller RG, Rothstein JD, Bowser R, Hamilton R, Wood TD, Cleveland DW, Lingappa VR, Liu J.
Proc Natl Acad Sci U S A 104(30):12524-9. Epub 2007 Jul 16. 2007
44SMN1, SOD1, HFE, APEX1, ANG
Genetics of sporadic amyotrophic lateral sclerosis.
Schymick JC, Talbot K, Traynor BJ.
Hum Mol Genet 16 Spec No 2:R233-42. 2007
45SOD1, ALS1
Amyotrophic lateral sclerosis-associated copper/zinc superoxide dismutase mutations preferentially reduce the repulsive charge of the proteins.
Sandelin E, Nordlund A, Andersen PM, Marklund SS, Oliveberg M.
J Biol Chem 282(29):21230-6. Epub 2007 May 18. 2007
46SOD1, ALS1
Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.
De Vos KJ, Chapman AL, Tennant ME, Manser C, Tudor EL, Lau KF, Brownlees J, Ackerley S, Shaw PJ, McLoughlin DM, Shaw CE, Leigh PN, Miller CC, Grierson AJ.
Hum Mol Genet 16(22):2720-8. Epub 2007 Aug 28. 2007
47SOD1
An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS
Rakhit R, Robertson J, Vande Velde C, Horne P, Ruth DM, Griffin J, Cleveland DW, Cashman NR, Chakrabartty A.
Nat Med. 13(6):754-9 2007
48ALS1, SOD1
Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis.
Niemann S, Broom WJ, Brown RH Jr.
Muscle Nerve 36(5):704-7.PMID: 17636481 2007
49SOD1
Activation of brain calcineurin (Cn) by Cu-Zn superoxide dismutase (SOD1) depends on direct SOD1-Cn protein interactions occurring in vitro and in vivo.
Agbas A, Hui D, Wang X, Tek V, Zaidi A, Michaelis EK.
Biochem J. 405(1):51-9. 2007
50SOD1
Redox modifier genes in amyotrophic lateral sclerosis in mice.
Marden JJ, Harraz MM, Williams AJ, Nelson K, Luo M, Paulson H, Engelhardt JF.
J Clin Invest. 117(10):2913-9. 2007
51ALS1, SOD1
Spinal cord endoplasmic reticulum stress associated with a microsomal accumulation of mutant superoxide dismutase-1 in an ALS model.
Kikuchi H, Almer G, Yamashita S, Guegan C, Nagai M, Xu Z, Sosunov AA, McKhann GM 2nd, Przedborski S.
Proc Natl Acad Sci U S A 103(15):6025-30. Epub 2006 Apr 4. 2006
52SOD1, ALS1
Onset and progression in inherited ALS determined by motor neurons and microglia.
Boillee S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, Kassiotis G, Kollias G, Cleveland DW.
Science 312(5778):1389-92. 2006
53SOD1
Familial ALS-superoxide dismutases associate with mitochondria and shift their redox potentials.
Ferri A, Cozzolino M, Crosio C, Nencini M, Casciati A, Gralla EB, Rotilio G, Valentine JS, Carri MT.
Proc Natl Acad Sci U S A 103(37):13860-5. Epub 2006 Aug 30. 2006
54SOD1
Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis.
Urushitani M, Sik A, Sakurai T, Nukina N, Takahashi R, Julien JP.
Nat Neurosci. 9(1):108-18. 2006
55SOD1
Mitochondrial damage due to SOD1 deficiency in SH-SY5Y neuroblastoma cells: a rationale for the redundancy of SOD1.
Aquilano K, Vigilanza P, Rotilio G, Ciriolo MR.
FASEB J. 20(10):1683-5. 2006
56SOD1
Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis.
Miller TM, Kim SH, Yamanaka K, Hester M, Umapathi P, Arnson H, Rizo L, Mendell JR, Gage FH, Cleveland DW, Kaspar BK.
Proc Natl Acad Sci U S A. 103(51):19546-51. 2006
57SOD1, ALS1
Lentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALS.
Raoul C, Abbas-Terki T, Bensadoun JC, Guillot S, Haase G, Szulc J, Henderson CE, Aebischer P.
Nat Med 11(4):423-8. Epub 2005 Mar 13. 2005
58ALS1, SOD1
Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation.
Wang J, Xu G, Li H, Gonzales V, Fromholt D, Karch C, Copeland NG, Jenkins NA, Borchelt DR.
Hum Mol Genet 14(16):2335-47. Epub 2005 Jul 6. 2005
59CCS, SOD1
Solution structure of the second PDZ domain of the neuronal adaptor X11alpha and its interaction with the C-terminal peptide of the human copper chaperone for superoxide dismutase.
Duquesne AE, Ruijter M, Brouwer J, Drijfhout JW, Nabuurs SB, Spronk CA, Vuister GW, Ubbink M, Canters GW.
J Biomol NMR 32(3):209-18. 2005
60SOD1
HoxB2 binds mutant SOD1 and is altered in transgenic model of ALS.
Zhai J, Lin H, Canete-Soler R, Schlaepfer WW.
Hum Mol Genet. 14(18):2629-40. 2005
61DVL1, HECW1, SOD1
NEDL1, a novel ubiquitin-protein isopeptide ligase for dishevelled-1, targets mutant superoxide dismutase-1.
Miyazaki K, Fujita T, Ozaki T, Kato C, Kurose Y, Sakamoto M, Kato S, Goto T, Itoyama Y, Aoki M, Nakagawara A.
J Biol Chem 279(12):11327-35. Epub 2003 Dec 18. 2004
62SOD1
Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria
Pasinelli P, Belford ME, Lennon N, Bacskai BJ, Hyman BT, Trotti D, Brown RH Jr.
Neuron. 43(1):19-30 2004
63SOD1
CHIP promotes proteasomal degradation of familial ALS-linked mutant SOD1 by ubiquitinating Hsp/Hsc70.
Urushitani M, Kurisu J, Tateno M, Hatakeyama S, Nakayama K, Kato S, Takahashi R.
J Neurochem. 90(1):231-44 2004
64SOD1
Gene transfer of CuZn superoxide dismutase enhances the synthesis of vascular endothelial growth factor.
Grzenkowicz-Wydra J, Cisowski J, Nakonieczna J, Zarebski A, Udilova N, Nohl H, Józkowicz A, Podhajska A, Dulak J.
Mol Cell Biochem. 264(1-2):169-81. 2004
65SOD1
Modulation of 3-hydroxy-3-methylglutaryl-CoA reductase gene expression by CuZn superoxide dismutase in human fibroblasts and HepG2 cells.
De Felice B, Santillo M, Serù R, Damiano S, Matrone G, Wilson RR, Mondola P.
Gene Expr. 12(1):29-38. 2004
66SOD1
Evidence for defective energy homeostasis in amyotrophic lateral sclerosis: benefit of a high-energy diet in a transgenic mouse model.
Dupuis L, Oudart H, René F, Gonzalez de Aguilar JL, Loeffler JP.
Proc Natl Acad Sci U S A. 101(30):11159-64. 2004
67SOD1
Superoxide dismutase 1 knock-down induces senescence in human fibroblasts.
Blander G, de Oliveira RM, Conboy CM, Haigis M, Guarente L.
J Biol Chem. 278(40):38966-9. 2003
68SOD1
Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature.
Wang J, Slunt H, Gonzales V, Fromholt D, Coonfield M, Copeland NG, Jenkins NA, Borchelt DR.
Hum Mol Genet. 12(21):2753-64. 2003
69SOD1, ALS1
Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis.
Menzies FM, Grierson AJ, Cookson MR, Heath PR, Tomkins J, Figlewicz DA, Ince PG, Shaw PJ.
J Neurochem 82(5):1118-28. 2002
70SOD1
Focal loss of the glutamate transporter EAAT2 in a transgenic rat model of SOD1 mutant-mediated amyotrophic lateral sclerosis (ALS)
Howland, D. S.; Liu, J.; She, Y.; Goad, B.; Maragakis, N. J.; Kim, B.; Erickson, J.; Kulik, J.; DeVito, L.; Psaltis, G.; DeGennaro, L. J.; Cleveland, D. W.; Rothstein, J. D.
Proc Natl Acad Sci U S A. 99: 1604-1609 2002
71SOD1
Mutated human SOD1 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice
Mattiazzi M, D'Aurelio M, Gajewski CD, Martushova K, Kiaei M, Beal MF, Manfredi G.
J Biol Chem. 277(33):29626-33 2002
72SOD1
Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity.
Niwa J, Ishigaki S, Hishikawa N, Yamamoto M, Doyu M, Murata S, Tanaka K, Taniguchi N, Sobue G.
J Biol Chem. 277(39):36793-8. 2002
73SOD1
Implication of copper zinc superoxide dismutase (SOD-1) in human placenta development.
Frendo JL, Therond P, Guibourdenche J, Vidaud M, Evain-Briona D.
Ann N Y Acad Sci. 973:297-301. 2002
74SOD1
Superoxide dismutase SOD1, encoded on chromosome 21, but not SOD2 is overexpressed in brains of patients with Down syndrome.
Gulesserian T, Seidl R, Hardmeier R, Cairns N, Lubec G.
J Investig Med 49(1):41-6. 2001
75SOD1
Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans.
Oeda, T.; Shimohama, S.; Kitagawa, N.; Kohno, R.; Imura, T.; Shibasaki, H.; Ishii, N.
Hum. Molec. Genet. 10: 2013-2023 2001
76SOD1
The neuronal adaptor protein X11alpha interacts with the copper chaperone for SOD1 and regulates SOD1 activity.
McLoughlin DM, Standen CL, Lau KF, Ackerley S, Bartnikas TP, Gitlin JD, Miller CC.
J Biol Chem. 276(12):9303-7. 2001
77SOD1
Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusions.
Nguyen MD, Larivière RC, Julien JP.
Neuron. 30(1):135-47. 2001
78SOD1
Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord.
Olsen MK, Roberds SL, Ellerbrock BR, Fleck TJ, McKinley DK, Gurney ME.
Ann Neurol. 50(6):730-40. 2001
79SOD1
Development and characterization of human and mouse specific antibodies to CuZn-superoxide dismutase (SOD1).
Bartlett SE, Singala R, Hashikawa A, Shaw L, Hendry IA.
J Neurosci Methods. 98(1):63-7. 2000
80SOD1
Genetic mapping of a mouse modifier gene that can prevent ALS onset.
Kunst CB, Messer L, Gordon J, Haines J, Patterson D.
Genomics. 70(2):181-9. 2000
81SOD1
The human copper-zinc superoxide dismutase gene (SOD1) proximal promoter is regulated by Sp1, Egr-1, and WT1 via non-canonical binding sites.
Minc E, et al.
J Biol Chem 274(1):503-9. 1999
82ALS1, SOD1
Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.
Aguirre T, et al.
Eur J Hum Genet 7(5):599-602. 1999
83ALS1, SF3B3, SOD1
Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
Ratovitski T, et al.
Hum Mol Genet 8(8):1451-60. 1999
84ALS1, SOD1
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
Penco S, et al.
Neurology 53(2):404-6 1999
85SOD1
Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese.
Hiroi S, Harada H, Nishi H, Satoh M, Nagai R, Kimura A.
Biochem Biophys Res Commun 261(2):332-9 1999
86ALS1, SOD1
A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis.
Kohno S, Takahashi Y, Miyajima H, Serizawa M, Mizoguchi K.
Neurosci Lett 276(2):135-7. 1999
87ALS1, SOD1
Chaperone-facilitated copper binding is a property common to several classes of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants.
Corson LB, et al.
Proc Natl Acad Sci U S A 95 : 6361-6366. 1998
88ALS1, SOD1
Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.
Cudkowicz ME, et al.
Ann Neurol 43 : 703-710. 1998
89ALS1, SOD1
Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS.
Ince PG, Tomkins J, Slade JY, Thatcher NM, Shaw PJ.
J Neuropathol Exp Neurol 57 : 895-904. 1998
90ALS1, SOD1
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder : evidence for a linked protective factor.
Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF.
Hum Mol Genet 7 : 2045-2050. 1998
91ALS1, SOD1
Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan.
Aoki M, et al.
Cell Mol Neurobiol 18(6):639-47. 1998
92SOD1
The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase
Casareno RL, Waggoner D, Gitlin JD.
J Biol Chem. 273(37):23625-8 1998
93SOD1
Overexpression of human copper, zinc-superoxide dismutase (SOD1) prevents postischemic injury.
Wang P, Chen H, Qin H, Sankarapandi S, Becher MW, Wong PC, Zweier JL.
Proc Natl Acad Sci U S A. 95(8):4556-60. 1998
94SOD1
Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant.
Williamson TL, Bruijn LI, Zhu Q, Anderson KL, Anderson SD, Julien JP, Cleveland DW.
Proc Natl Acad Sci U S A. 95(16):9631-6. 1998
95ALS1, SOD1
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease.
Watanabe M, et al.
Hum Mutat 9 : 69-71. 1997
96ALS1, SOD1
Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions.
Kunst CB, et al.
Nat Genet 15 : 91-94. 1997
97ALS1, SOD1
Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
Kawamata J, et al.
Hum Mutat 9 : 356-358. 1997
98ALS1, SOD1
Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity : identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis.
Zu JS, et al.
Neurogenetics 1 : 65-71. 1997
99APP, GRIK1, SOD1, DEL21QD, DEL21QT
High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1.
Orti R, Megarbane A, Maunoury C, Van Broeckhoven C, Sinet PM, Delabar JM.
Genomics 43(1):25-33. 1997
100ALS1, SOD1
Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
Orrell RW, et al.
Neurology 48 : 746-751. 1997
101ALS1, SOD1
Mutant superoxide dismutase-1-linked familial amyotrophic lateral sclerosis : molecular mechanisms of neuronal death and protection.
Ghadge GD, Lee JP, Bindokas VP, Jordan J, Ma L, Miller RJ, Roos RP.
J Neurosci 17(22):8756-66. 1997
102ALS1, SOD1
Copper/Zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis : analysis of 155 cases and identification of a novel insertion mutation.
Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE.
Ann Neurol 42(5):803-7. 1997
103ALS1, SOD1
Superoxide dismutase 1 : identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.
Kostrzewa M, et al.
Hum Genet 98 : 48-50. 1996
104ALS1, SOD1
A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutant : an enhancement of free radical formation due to a decrease in Km for hydrogen peroxide.
Yim MB, et al.
Proc Natl Acad Sci U S A 93 : 5709-5714. 1996
105SOD1, ALS1
Mutations in copper-zinc superoxide dismutase that cause amyotrophic lateral sclerosis alter the zinc binding site and the redox behavior of the protein.
Lyons TJ, et al.
Proc Natl Acad Sci U S A 93 : 12240-12244. 1996
106ALS1, SOD1
A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis.
Hayward C, et al.
Am J Hum Genet 59 : 1165-1167. 1996
107ALS1, SOD1
Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene : multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes.
Kato S, et al.
J Neuropathol Exp Neurol 55 : 1089-1101. 1996
108ALS1, SOD1
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis.
Robberecht W, et al.
Neurology 47 : 1336-1339. 1996
109ALS1, SOD1
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
Hosler BA, et al.
Neuromuscul Disord 6 : 361-366. 1996
110SOD1, ALS1
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
Pramatarova A, et al.
Am J Hum Genet 56 : 592-596. 1995
111SOD1, ALS1
A novel mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.
Ikeda M, et al.
Hum Mol Genet 4 : 491-492. 1995
112ALS1, SOD1
Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients.
Jones CT, et al.
J Med Genet 32 : 290-292. 1995
113ALS1, SOD1
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
Andersen PM, et al.
Nat Genet 10 : 61-66. 1995
114ALS1, SOD1
Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene : studies in yeast and neural cells.
Rabizadeh S, et al.
Proc Natl Acad Sci U S A 92 : 3024-3028. 1995
115SOD1
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.
Yulug IG, et al.
Hum Mol Genet 4 : 1101-1104. 1995
116SOD1
The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in Northern Sweden and Finland.
SjŠlander A, et al.
Hum Mol Genet 4 : 1105-1108. 1995
117ALS1, SOD1
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
Deng HX, et al.
Hum Mol Genet 4 : 1113-1116. 1995
118SOD1, ALS1
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
Enayat ZE, et al.
Hum Mol Genet 4 : 1239-1240. 1995
119SOD1
Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons
Pardo CA, Xu Z, Borchelt DR, Price DL, Sisodia SS, Cleveland DW.
Proc Natl Acad Sci U S A. 92(4):954-8 1995
120SOD1
Subunit-destabilizing mutations in Drosophila copper/zinc superoxide dismutase: Neuropathology and a model of dimer dysequilibrium.
Phillips, J. P.; Tainer, J. A.; Getzoff, E. D.; Boulianne, G. L.; Kirby, K.; Hilliker, A. J.
Proc Natl Acad Sci U S A. 92: 8574-8578 1995
121ALS1, SOD1
Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis.
Elshafey A, et al.
Hum Mol Genet 3 : 363-364. 1994
122ALS1, SOD1
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
Jones CT, et al.
Hum Mol Genet 3 : 649-650. 1994
123ALS1, SOD1
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
Esteban J, et al.
Hum Mol Genet 3 : 997-998. 1994
124SOD1, ALS1
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
Rosen DR, et al.
Hum Mol Genet 3 : 981-987. 1994
125SOD1, ALS1
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity.
Borchelt DR, et al.
Proc Natl Acad Sci U S A 91 : 8292-8296. 1994
126ALS1, SOD1
A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis.
Nakano R, et al.
Biochem Biophys Res Commun 200 : 695-703. 1994
127SOD1, ALS1
An inactivating mutation in the SOD 1 gene causes familial amyotrophic lateral sclerosis. (abstr)
Pramatarova A, et al.
Am J Hum Genet 55 : A236. 1994
128ALS1, SOD1
A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis.
Pramatarova A, et al.
Hum Mol Genet 3 : 2061-2062. 1994
129ALS1, SOD1
Autosomal dominant amyotrophic lateral sclerosis : a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
Kostrzewa M, et al.
Hum Mol Genet 3 : 2261-2262. 1994
130ALS1, SOD1
Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis.
Tsuda T, et al.
Neuron 13 : 727-736. 1994
131ALS1, SOD1
Sporadic motoneuron disease due to familial SOD1 mutation with low penetrance.
Suthers G, et al.
Lancet 344 : 1773. 1994
132ALS1, SOD1
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
Jones CT, et al.
Mol Cell Probes 8 : 329-330. 1994
133SOD1, ALS1
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene : a possible new subtype of familial ALS.
Aoki M, et al.
J Neurol Sci 126 : 77-83. 1994
134SOD1, ALS1
A new variant Cu/Zn superoxide dismutase (Val7-Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis.
Hirano M, et al.
Biochem Biophys Res Commun 204 : 572-577. 1994
135SOD1
Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
Gurney, M. E.; Pu, H.; Chiu, A. Y.; Dal Canto, M. C.; Polchow, C. Y.; Alexander, D. D.; Caliendo, J.; Hentati, A.; Kwon, Y. W.; Deng, H.-X.; Chen, W.; Zhai, P.; Sufit, R. L.; Siddique, T.
Science 264: 1772-1775 1994
136SOD1
Chronic inhibition of superoxide dismutase produces apoptotic death of spinal neurons.
Rothstein JD, Bristol LA, Hosler B, Brown RH Jr, Kuncl RW.
Proc Natl Acad Sci U S A. 91(10):4155-9. 1994
137SOD1, ALS1
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
Rosen DR, et al.
Nature 362 : 59-62. 1993
138ALS1, SOD1
Mild ALS in Japan associated with novel SOD mutation.
Ogasawara M, et al.
Nat Genet 5 : 323-324. 1993
139SOD1, ALS1
Ala4 mutation in SOD1 is the most frequent mutation in chromosome 21-linked familial ALS (FALS).
Siddique T, et al.
Am J Hum Genet 53 : 1229. 1993
140SOD1
Copper,zinc superoxide dismutase is primarily a cytosolic protein in human cells.
Crapo JD, Oury T, Rabouille C, Slot JW, Chang LY.
Proc Natl Acad Sci U S A 89(21):10405-9. 1992
141SOD1
Cu,Zn superoxide dismutase is a peroxisomal enzyme in human fibroblasts and hepatoma cells.
Keller GA, Warner TG, Steimer KS, Hallewell RA.
Proc Natl Acad Sci U S A. 88(16):7381-5 1991
142AD1, SOD1
Absence de liaison Žtroite entre la maladie d'Alzheimer et la sonde polymorphe codant pour la superoxyde dismutase 1.
David F, et al.
C R Acad Sci III 306 (III) : 1-4. 1988
143APP, D21S11, D21S60, GART, SOD1
Irradiation-reduced human chromosome 21 hybrids.
Graw S, et al.
Somat Cell Mol Genet 14 : 233-242. 1988
144SOD1
Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality.
Huret JL, et al.
Hum Genet 75 : 251-257. 1987
145SOD1
Molecular genetics of Down's syndrome : overexpression of transfected human CU/Zn-superoxide dismutase gene and the consequent physiological changes.
Groner Y, et al.
Cold Spring Harbor Symp Quant Biol 51 : 381-393. 1986
146D21S1, D21S3, D21S11, SOD1
Initial construction of a linkage map of chromosome 21.
Kittur SD, et al.
(HGM8) Cytogenet Cell Genet 40 : 668. 1985
147SOD1
Erythrocyte superoxide dismutase-1 and 21 monosomy.
Nakai H, et al.
(HGM7) Cytogenet Cell Genet 37 : 547. 1984
148SOD1
Confirmation of the assignment of the human SODs gene to chromosome 21q22.
Philip T, et al.
Cytogenet Cell Genet 22 : 521-523. 1978
149SOD1
Trisomie 21 et superoxyde dismutase-1 (IPO-A): tentative de localisation sur la sous-bande 21q22.1.
Sinet PM, et al.
Exp Cell Res 97 : 47-55. 1976
150SOD1
Trisomie 21 partielle (21q21-21q22.2).
Poissonnier M, et al.
Ann Genet 19 : 69-73. 1976
151SOD1
Partial trisomy 21.
Aula P, et al.
Clin Genet 4 : 241-251. 1973
152IFNAR1, IFNAR2, SOD1
The linkage of genes for the human interferon-induces antiviral protein and indophenol oxidase-B traits to chromosome G-21.
Tan YH, et al.
J Exp Med 137 : 317-330. 1973