1 | SOD1
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| Non-enzymatic role of SOD1 in intestinal stem cell growth
|
| Wang YC, Leng XX, Zhou CB, Lu SY, Tsang CK, Xu J, Zhang MM, Chen HM, Fang JY.
|
| Cell Death Dis. Oct 20;13(10):882. doi: 10.1038/s41419-022-05267-w. 2022
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2 | ALS1, SOD1
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| Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
|
| Trist BG, Genoud S, Roudeau S, Rookyard A, Abdeen A, Cottam V, Hare DJ, White M, Altvater J, Fifita JA, Hogan A, Grima N, Blair IP, Kysenius K, Crouch PJ, Carmona A, Rufin Y, Claverol S, Van Malderen S, Falkenberg G, Paterson DJ, Smith B, Troakes C, Vance C, Shaw CE, Al-Sarraj S, Cordwell S, Halliday G, Ortega R, Double KL.
|
| Brain. Sep 14;145(9):3108-3130. doi: 10.1093/brain/awac165 2022
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3 | SOD1
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| SOD1-interacting proteins: Roles of aggregation cores and protein degradation systems
|
| Une M, Yamakawa M, Watanabe Y, Uchino K, Honda N, Adachi M, Nakanishi M, Umezawa A, Kawata Y, Nakashima K, Hanajima R.
|
| Neurosci Res. Sep;170:295-305. doi: 10.1016/j.neures.2020.07.010. Epub 2020 Jul 26. 2021
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4 | CCS, SOD1
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| Molecular and pharmacological chaperones for SOD1
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| Wright GSA.
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| Biochem Soc Trans. Aug 28;48(4):1795-1806. doi: 10.1042/BST20200318 2020
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5 | SOD1
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| Nucleation and kinetics of SOD1 aggregation in human cells for ALS1
|
| Workman A.
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| Mol Cell Biochem. Mar;466(1-2):117-128. doi: 10.1007/s11010-020-03693-y. Epub 2020 Feb 13. 2020
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6 | SOD1, STHAP
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| SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
|
| Park JH, Elpers C, Reunert J, McCormick ML, Mohr J, Biskup S, Schwartz O, Rust S, Grüneberg M, Seelhöfer A, Schara U, Boltshauser E, Spitz DR, Marquardt T.
|
| Brain Aug 1;142(8):2230-2237. doi: 10.1093/brain/awz182. 2019
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7 | SOD1, STHAP
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| Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
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| Andersen PM, Nordström U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, Zetterström P, Marklund SL, Hempel M, Santer R.
|
| N Engl J Med. Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17. 2019
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8 | ALS1, SOD1
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| Structural Properties and Interaction Partners of Familial ALS-Associated SOD1 Mutants
|
| Huai J, Zhang Z.
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| Front Neurol. May 21;10:527. doi: 10.3389/fneur.2019.00527. 2019
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9 | RAC1, SOD1
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| SOD1 stimulates lamellipodial protrusions in Neuro 2A cell lines
|
| Ferrari I, Verpelli C, Crespi A, Sala C, Fornasari D, Pietrini G.
|
| Commun Integr Biol. Aug 9;11(3):1-7. doi: 10.1080/19420889.2018.1486652. 2018
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10 | SOD1
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| Aggregated SOD1 causes selective death of cultured human motor neurons.
|
| Benkler C, O'Neil AL, Slepian S, Qian F, Weinreb PH, Rubin LL.
|
| Sci Rep. Nov 6;8(1):16393. doi: 10.1038/s41598-018-34759-z. 2018
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11 | DERL1, SOD1
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| A small-molecule inhibitor of SOD1-Derlin-1 interaction ameliorates pathology in an ALS mouse model.
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| Tsuburaya N, Homma K, Higuchi T, Balia A, Yamakoshi H, Shibata N, Nakamura S, Nakagawa H, Ikeda SI, Umezawa N, Kato N, Yokoshima S, Shibuya M, Shimonishi M, Kojima H, Okabe T, Nagano T, Naguro I, Imamura K, Inoue H, Fujisawa T, Ichijo H.
|
| Nat Commun. Jul 10;9(1):2668. doi: 10.1038/s41467-018-05127-2. 2018
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12 | SCN3A, SOD1
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| 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
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13 | ALS1, SOD1
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| Disease Mechanisms in ALS: Misfolded SOD1 Transferred Through Exosome-Dependent and Exosome-Independent Pathways
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| Silverman JM, Fernando SM, Grad LI, Hill AF, Turner BJ, Yerbury JJ, Cashman NR.
|
| Cell Mol Neurobiol. Apr;36(3):377-81. doi: 10.1007/s10571-015-0294-3. Epub 2016 Feb 23 2016
|
14 | SOD1
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| Copper Homeostasis as a Therapeutic Target in Amyotrophic Lateral Sclerosis with SOD1 Mutations
|
| Tokuda E, Furukawa Y.
|
| Int J Mol Sci. Apr 28;17(5):636. doi: 10.3390/ijms17050636. 2016
|
15 | ALS1, SOD1
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| SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis
|
| Tafuri F, Ronchi D, Magri F, Comi GP, Corti S.
|
| Front Cell Neurosci. Aug 25;9:336. doi: 10.3389/fncel.2015.00336. 2015
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16 | HDAC6, SOD1
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| 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
|
17 | ALS1, SOD1
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| 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
|
18 | DERL1, 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
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19 | ALS1, 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
|
20 | CCS, SOD1
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| 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
|
21 | SOD1
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| Palmitoylation of superoxide dismutase 1 (SOD1) is increased for familial amyotrophic lateral sclerosis-linked SOD1 mutants
|
| Antinone SE, Ghadge GD, Lam TT, Wang L, Roos RP, Green WN.
|
| J Biol Chem. Jul 26;288(30):21606-17. doi: 10.1074/jbc.M113.487231. Epub 2013 Jun 12. 2013
|
22 | GLI1, PTCH1, SOD1
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| 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
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23 | CCS, SOD1
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| 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
|
24 | MTRNR2L1, 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
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25 | SOD1
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| 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
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26 | BDNF, NTRK2, SOD1
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| 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
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27 | ALS1, CCS, SOD1
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| 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
|
28 | ALS1, 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
|
29 | ALS1, SOD1
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| 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
|
30 | ALS1, ALS10, ALS6, ALS8, ALS9, ANG, FUS, SOD1, TARDBP, VAPB
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| 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
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31 | ALS1, BCL2, SOD1
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| 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
|
32 | ALS1, SOD1
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| 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
|
33 | ALS1, 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
|
34 | ALS1, 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
|
35 | SOD1
|
| 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
|
36 | SOD1, 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
|
37 | ALS1, 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
|
38 | SOD1
|
| 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
|
39 | ALS1, 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
|
40 | ALS1, 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
|
41 | ALS1, 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
|
42 | AMFR, 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
|
43 | CCS, 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
|
44 | SOD1
|
| 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
|
45 | SOD1
|
| 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
|
46 | SOD1
|
| 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
|
47 | SOD1
|
| 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
|
48 | SOD1
|
| 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
|
49 | ALS1, 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
|
50 | ALS1, 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
|
51 | ALS1, 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
|
52 | KARS, 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
|
53 | ALS1, 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
|
54 | CCS, 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
|
55 | ALS1, 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
|
56 | ALS1,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
|
57 | ALS1,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
|
58 | SOD1
|
| 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
|
59 | SMN1, 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
|
60 | SOD1, 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
|
61 | SOD1, 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
|
62 | SOD1
|
| 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
|
63 | ALS1, 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
|
64 | SOD1
|
| 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
|
65 | SOD1
|
| 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
|
66 | ALS1, 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
|
67 | SOD1, 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
|
68 | SOD1
|
| 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
|
69 | SOD1
|
| 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
|
70 | SOD1
|
| 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
|
71 | SOD1
|
| 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
|
72 | SOD1, 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
|
73 | ALS1, 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
|
74 | CCS, 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
|
75 | SOD1
|
| 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
|
76 | DVL1, 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
|
77 | SOD1
|
| 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
|
78 | SOD1
|
| 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
|
79 | SOD1
|
| 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
|
80 | SOD1
|
| 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
|
81 | SOD1
|
| 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
|
82 | SOD1
|
| 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
|
83 | SOD1
|
| 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
|
84 | SOD1, 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
|
85 | SOD1
|
| 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
|
86 | SOD1
|
| 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
|
87 | SOD1
|
| 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
|
88 | SOD1
|
| 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
|
89 | SOD1
|
| 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
|
90 | SOD1
|
| 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
|
91 | SOD1
|
| 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
|
92 | SOD1
|
| 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
|
93 | SOD1
|
| 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
|
94 | SOD1
|
| 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
|
95 | SOD1
|
| 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
|
96 | SOD1
|
| 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
|
97 | ALS1, 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
|
98 | ALS1, 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
|
99 | ALS1, SOD1
|
| A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
| Penco S, et al.
|
| Neurology 53(2):404-6 1999
|
100 | SOD1
|
| 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
|
101 | ALS1, 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
|
102 | ALS1, 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
|
103 | ALS1, 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
|
104 | ALS1, 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
|
105 | ALS1, 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
|
106 | ALS1, 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
|
107 | SOD1
|
| 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
|
108 | SOD1
|
| 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
|
109 | SOD1
|
| 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
|
110 | ALS1, 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
|
111 | ALS1, SOD1
|
| Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions.
|
| Kunst CB, et al.
|
| Nat Genet 15 : 91-94. 1997
|
112 | ALS1, 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
|
113 | ALS1, 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
|
114 | APP, 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
|
115 | ALS1, 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
|
116 | ALS1, 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
|
117 | ALS1, 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
|
118 | ALS1, 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
|
119 | ALS1, 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
|
120 | SOD1, 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
|
121 | ALS1, 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
|
122 | ALS1, 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
|
123 | ALS1, 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
|
124 | ALS1, 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
|
125 | SOD1, 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
|
126 | SOD1, 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
|
127 | ALS1, 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
|
128 | ALS1, 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
|
129 | ALS1, 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
|
130 | SOD1
|
| 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
|
131 | SOD1
|
| 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
|
132 | ALS1, SOD1
|
| Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
|
| Deng HX, et al.
|
| Hum Mol Genet 4 : 1113-1116. 1995
|
133 | SOD1, 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
|
134 | SOD1
|
| 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
|
135 | SOD1
|
| 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
|
136 | ALS1, 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
|
137 | ALS1, 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
|
138 | ALS1, 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
|
139 | SOD1, 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
|
140 | SOD1, 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
|
141 | ALS1, 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
|
142 | SOD1, 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
|
143 | ALS1, 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
|
144 | ALS1, 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
|
145 | ALS1, 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
|
146 | ALS1, SOD1
|
| Sporadic motoneuron disease due to familial SOD1 mutation with low penetrance.
|
| Suthers G, et al.
|
| Lancet 344 : 1773. 1994
|
147 | ALS1, 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
|
148 | SOD1, 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
|
149 | SOD1, 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
|
150 | SOD1
|
| 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
|
151 | SOD1
|
| 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
|
152 | SOD1, ALS1
|
| Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
| Rosen DR, et al.
|
| Nature 362 : 59-62. 1993
|
153 | ALS1, SOD1
|
| Mild ALS in Japan associated with novel SOD mutation.
|
| Ogasawara M, et al.
|
| Nat Genet 5 : 323-324. 1993
|
154 | SOD1, 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
|
155 | SOD1
|
| 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
|
156 | SOD1
|
| 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
|
157 | AD1, 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
|
158 | APP, D21S11, D21S60, GART, SOD1
|
| Irradiation-reduced human chromosome 21 hybrids.
|
| Graw S, et al.
|
| Somat Cell Mol Genet 14 : 233-242. 1988
|
159 | SOD1
|
| 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
|
160 | SOD1
|
| 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
|
161 | D21S1, D21S3, D21S11, SOD1
|
| Initial construction of a linkage map of chromosome 21.
|
| Kittur SD, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 668. 1985
|
162 | SOD1
|
| Erythrocyte superoxide dismutase-1 and 21 monosomy.
|
| Nakai H, et al.
|
| (HGM7) Cytogenet Cell Genet 37 : 547. 1984
|
163 | SOD1
|
| Confirmation of the assignment of the human SODs gene to chromosome 21q22.
|
| Philip T, et al.
|
| Cytogenet Cell Genet 22 : 521-523. 1978
|
164 | SOD1
|
| 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
|
165 | SOD1
|
| Trisomie 21 partielle (21q21-21q22.2).
|
| Poissonnier M, et al.
|
| Ann Genet 19 : 69-73. 1976
|
166 | SOD1
|
| Partial trisomy 21.
|
| Aula P, et al.
|
| Clin Genet 4 : 241-251. 1973
|
167 | IFNAR1, 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
|