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Sequence of SODC_HUMAN

EC Number:1.15.1.1

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
superoxide dismutase
P00441
Homo sapiens
154
15936
Reaction
2 superoxide + 2 H+ = O2 + H2O2
Other sequences found for EC No. 1.15.1.1

General information:

Sequence
show sequence in fasta format
  0 MATKAVCVLK GDGPVQGIIN FEQKESNGPV KVWGSIKGLT EGLHGFHVHE FGDNTAGCTS
 60 AGPHFNPLSR KHGGPKDEER HVGDLGNVTA DKDGVADVSI EDSVISLSGD HCIIGRTLVV
120 HEKADDLGKG GNEESTKTGN AGSRLACGVI GIAQ
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
101217
Sherman L.,Dafni N.,Lieman-Hurwitz J.,Groner Y.
Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA.
Proc. Natl. Acad. Sci. U.S.A.
80
5465-5469
1983
101218
Levanon D.,Lieman-Hurwitz J.,Dafni N.,Wigderson M.,Sherman L.,Bernstein Y.,Laver-Rudich Z.,Danciger E.,Stein O.,Groner Y.
Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase.
EMBO J.
4
77-84
1985
101219
Hallewell R.A.,Masiarz F.R.,Najarian R.C.,Puma J.P.,Quiroga M.R.,Randolph A.,Sanchez-Pescador R.,Scandella C.J.,Smith B.,Steimer K.S.,Mullenbach G.T.
Human Cu/Zn superoxide dismutase cDNA: isolation of clones synthesising high levels of active or inactive enzyme from an expression library.
Nucleic Acids Res.
13
2017-2034
1985
101220
Kajihara J.,Enomoto M.,Nishijima K.,Yabuuchi M.,Katoh K.
Comparison of properties between human recombinant and placental copper-zinc SOD.
J. Biochem.
104
851-854
1988
101224
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
101229
Hattori M.,Fujiyama A.,Taylor T.D.,Watanabe H.,Yada T.,Park H.-S.,Toyoda A.,Ishii K.,Totoki Y.,Choi D.-K.,Groner Y.,Soeda E.,Ohki M.,Takagi T.,Sakaki Y.,Taudien S.,Blechschmidt K.,Polley A.,Menzel U.,Delabar J.,Kumpf K.,Lehmann R.,Patterson D.,Reichwald K.,Rump A.,Schillhabel M.,Schudy A.,Zimmermann W.,Rosenthal A.,Kudoh J.,Shibuya K.,Kawasaki K.,Asakawa S.,Shintani A.,Sasaki T.,Nagamine K.,Mitsuyama S.,Antonarakis S.E.,Minoshima S.,Shimizu N.,Nordsiek G.,Hornischer K.,Brandt P.,Scharfe M.,Schoen O.,Desario A.,Reichelt J.,Kauer G.,Bloecker H.,Ramser J.,Beck A.,Klages S.,Hennig S.,Riesselmann L.,Dagand E.,Wehrmeyer S.,Borzym K.,Gardiner K.,Nizetic D.,Francis F.,Lehrach H.,Reinhardt R.,Yaspo M.-L.
The DNA sequence of human chromosome 21.
Nature
405
311-319
2000
101231
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
101232
Jabusch J.R.,Farb D.L.,Kerschensteiner D.A.,Deutsch H.F.
Some sulfhydryl properties and primary structure of human erythrocyte superoxide dismutase.
Biochemistry
19
2310-2316
1980
101233
Barra D.,Martini F.,Bannister J.V.,Schinina M.E.,Rotilio G.,Bannister W.H.,Bossa F.
The complete amino acid sequence of human Cu/Zn superoxide dismutase.
FEBS Lett.
120
53-56
1980
101235
Enayat Z.E.,Orrell R.W.,Claus A.,Ludolph A.,Bachus R.,Brockmueller J.,Ray-Chaudhuri K.,Radunovic A.,Shaw C.,Wilkinson J.,King A.,Swash M.,Leigh P.N.,de Belleroche J.,Powell J.
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
Hum. Mol. Genet.
4
1239-1240
1995
101236
Kostrzewa M.,Daamian M.,Mueller U.
Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.
Hum. Genet.
98
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1996
101237
Arnesano F.,Banci L.,Bertini I.,Martinelli M.,Furukawa Y.,O'Halloran T.V.
The unusually stable quaternary structure of human Cu,Zn-superoxide dismutase 1 is controlled by both metal occupancy and disulfide status.
J. Biol. Chem.
279
47998-48003
2004
101238
Dephoure N.,Zhou C.,Villen J.,Beausoleil S.A.,Bakalarski C.E.,Elledge S.J.,Gygi S.P.
A quantitative atlas of mitotic phosphorylation.
Proc. Natl. Acad. Sci. U.S.A.
105
10762-10767
2008
101239
Choudhary C.,Kumar C.,Gnad F.,Nielsen M.L.,Rehman M.,Walther T.C.,Olsen J.V.,Mann M.
Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Science
325
834-840
2009
101240
Medinas D.B.,Gozzo F.C.,Santos L.F.,Iglesias A.H.,Augusto O.
A ditryptophan cross-link is responsible for the covalent dimerization of human superoxide dismutase 1 during its bicarbonate-dependent peroxidase activity.
Free Radic. Biol. Med.
49
1046-1053
2010
101241
Olsen J.V.,Vermeulen M.,Santamaria A.,Kumar C.,Miller M.L.,Jensen L.J.,Gnad F.,Cox J.,Jensen T.S.,Nigg E.A.,Brunak S.,Mann M.
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Sci. Signal.
3
0-0
2010
101242
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
101243
Marin E.P.,Derakhshan B.,Lam T.T.,Davalos A.,Sessa W.C.
Endothelial cell palmitoylproteomic identifies novel lipid-modified targets and potential substrates for protein acyl transferases.
Circ. Res.
110
1336-1344
2012
101244
Rosenow A.,Noben J.P.,Jocken J.,Kallendrusch S.,Fischer-Posovszky P.,Mariman E.C.,Renes J.
Resveratrol-induced changes of the human adipocyte secretion profile.
J. Proteome Res.
11
4733-4743
2012
101245
Lin Z.F.,Xu H.B.,Wang J.Y.,Lin Q.,Ruan Z.,Liu F.B.,Jin W.,Huang H.H.,Chen X.
SIRT5 desuccinylates and activates SOD1 to eliminate ROS.
Biochem. Biophys. Res. Commun.
441
191-195
2013
101246
Banci L.,Cantini F.,Kozyreva T.,Rubino J.T.
Mechanistic aspects of hSOD1 maturation from the solution structure of Cu(I) -loaded hCCS domain 1 and analysis of disulfide-free hSOD1 mutants.
ChemBioChem
14
1839-1844
2013
101247
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
101248
Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.
N-terminome analysis of the human mitochondrial proteome.
Proteomics
15
2519-2524
2015
101249
Park J.H.,Elpers C.,Reunert J.,McCormick M.L.,Mohr J.,Biskup S.,Schwartz O.,Rust S.,Grueneberg M.,Seelhoefer A.,Schara U.,Boltshauser E.,Spitz D.R.,Marquardt T.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Brain
142
2230-2237
2019
101250
Andersen P.M.,Nordstroem U.,Tsiakas K.,Johannsen J.,Volk A.E.,Bierhals T.,Zetterstroem P.,Marklund S.L.,Hempel M.,Santer R.
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.
N. Engl. J. Med.
381
486-488
2019
101251
Parge H.E.,Hallewell R.A.,Tainer J.A.
Atomic structures of wild-type and thermostable mutant recombinant human Cu,Zn superoxide dismutase.
Proc. Natl. Acad. Sci. U.S.A.
89
6109-6113
1992
101252
Hart P.J.,Liu H.,Pellegrini M.,Nersissian A.M.,Gralla E.B.,Valentine J.S.,Eisenberg D.
Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis.
Protein Sci.
7
545-555
1998
101253
Banci L.,Benedetto M.,Bertini I.,del Conte R.,Piccioli M.,Viezzoli M.S.
Solution structure of reduced monomeric Q133M2 copper, zinc superoxide dismutase (SOD). Why is SOD a dimeric enzyme?
Biochemistry
37
11780-11791
1998
101254
Ferraroni M.,Rypniewski W.,Wilson K.S.,Viezzoli M.S.,Banci L.,Bertini I.,Mangani S.
The crystal structure of the monomeric human SOD mutant F50E/G51E/E133Q at atomic resolution. The enzyme mechanism revisited.
J. Mol. Biol.
288
413-426
1999
101255
Banci L.,Bertini I.,Cramaro F.,Del Conte R.,Viezzoli M.S.
Solution structure of Apo Cu,Zn superoxide dismutase: role of metal ions in protein folding.
Biochemistry
42
9543-9553
2003
101256
DiDonato M.,Craig L.,Huff M.E.,Thayer M.M.,Cardoso R.M.,Kassmann C.J.,Lo T.P.,Bruns C.K.,Powers E.T.,Kelly J.W.,Getzoff E.D.,Tainer J.A.
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
J. Mol. Biol.
332
601-615
2003
101257
Elam J.S.,Taylor A.B.,Strange R.,Antonyuk S.,Doucette P.A.,Rodriguez J.A.,Hasnain S.S.,Hayward L.J.,Valentine J.S.,Yeates T.O.,Hart P.J.
Amyloid-like filaments and water-filled nanotubes formed by SOD1 mutant proteins linked to familial ALS.
Nat. Struct. Biol.
10
461-467
2003
101258
Hough M.A.,Grossmann J.G.,Antonyuk S.V.,Strange R.W.,Doucette P.A.,Rodriguez J.A.,Whitson L.J.,Hart P.J.,Hayward L.J.,Valentine J.S.,Hasnain S.S.
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
Proc. Natl. Acad. Sci. U.S.A.
101
5976-5981
2004
101259
Banci L.,Bertini I.,Cantini F.,D'Amelio N.,Gaggelli E.
Human SOD1 before harboring the catalytic metal: solution structure of copper-depleted, disulfide-reduced form.
J. Biol. Chem.
281
2333-2337
2006
101260
Strange R.W.,Antonyuk S.V.,Hough M.A.,Doucette P.A.,Valentine J.S.,Hasnain S.S.
Variable metallation of human superoxide dismutase: atomic resolution crystal structures of Cu-Zn, Zn-Zn and as-isolated wild-type enzymes.
J. Mol. Biol.
356
1152-1162
2006
101261
Hoernberg A.,Logan D.T.,Marklund S.L.,Oliveberg M.
The coupling between disulphide status, metallation and dimer interface strength in Cu/Zn superoxide dismutase.
J. Mol. Biol.
365
333-342
2007
101262
Roberts B.R.,Tainer J.A.,Getzoff E.D.,Malencik D.A.,Anderson S.R.,Bomben V.C.,Meyers K.R.,Karplus P.A.,Beckman J.S.
Structural characterization of zinc-deficient human superoxide dismutase and implications for ALS.
J. Mol. Biol.
373
877-890
2007
101263
Strange R.W.,Yong C.W.,Smith W.,Hasnain S.S.
Molecular dynamics using atomic-resolution structure reveal structural fluctuations that may lead to polymerization of human Cu-Zn superoxide dismutase.
Proc. Natl. Acad. Sci. U.S.A.
104
10040-10044
2007
101264
Cao X.,Antonyuk S.V.,Seetharaman S.V.,Whitson L.J.,Taylor A.B.,Holloway S.P.,Strange R.W.,Doucette P.A.,Valentine J.S.,Tiwari A.,Hayward L.J.,Padua S.,Cohlberg J.A.,Hasnain S.S.,Hart P.J.
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
J. Biol. Chem.
283
16169-16177
2008
101266
de Belleroche J.,Orrell R.,King A.
Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments.
J. Med. Genet.
32
841-847
1995
101267
Seetharaman S.V.,Taylor A.B.,Holloway S.,Hart P.J.
Structures of mouse SOD1 and human/mouse SOD1 chimeras.
Arch. Biochem. Biophys.
503
183-190
2010
101268
Rosen D.R.,Siddique T.,Patterson D.,Figlewicz D.A.,Sapp P.,Hentati A.,Donaldson D.,Goto J.,O'Regan J.P.,Deng H.-X.,Rahmani Z.,Krizus A.,McKenna-Yasek D.,Cayabyab A.,Gaston S.M.,Berger R.,Tanzi R.E.,Halperin J.J.,Herzfeldt B.,van den Bergh R.,Hung W.-Y.,Bird T.,Deng G.,Mulder D.W.,Smyth C.,Laing N.G.,Soriano E.,Pericak-Vance M.A.,Haines J.,Rouleau G.A.,Gusella J.S.,Horvitz H.R.,Brown R.H. Jr.
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
Nature
362
59-62
1993
101269
Rosen D.R.
Nature
364
362-362
1993
101270
Deng H.-X.,Hentati A.,Tainer J.A.,Iqbal Z.,Cayabyab A.,Hung W.-Y.,Getzoff E.D.,Hu P.,Herzfeldt B.,Roos R.P.,Warner C.,Deng G.,Soriano E.,Smyth C.,Parge H.E.,Ahmed A.,Roses A.D.,Hallewell R.A.,Pericak-Vance M.A.,Siddique T.
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
Science
261
1047-1051
1993
101271
Nakano R.,Sato S.,Inuzuka T.,Sakimura K.,Mishina M.,Takahashi H.,Ikuta F.,Honma Y.,Fujii J.,Taniguchi N.,Tsuji S.
A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis.
Biochem. Biophys. Res. Commun.
200
695-703
1994
101272
Hirano M.,Fujii J.,Nagai Y.,Sonobe M.,Okamoto K.,Araki H.,Taniguchi N.,Ueno S.
A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis.
Biochem. Biophys. Res. Commun.
204
572-577
1994
101273
Jones C.T.,Swinger R.J.,Brock D.J.H.
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
Hum. Mol. Genet.
3
649-650
1994
101274
Esteban J.,Rosen D.R.,Bowling A.C.,Sapp P.,McKenna-Yasek D.,O'Regan J.P.,Beal M.F.,Horvitz H.R.,Brown R.H. Jr.
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
Hum. Mol. Genet.
3
997-998
1994
101275
Kostrzewa M.,Burck-Lehmann U.,Mueller U.
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
Hum. Mol. Genet.
3
2261-2262
1994
101276
Aoki M.,Ogasawara M.,Matsubara Y.,Narisawa K.,Nakamura S.,Itoyama Y.,Abe K.
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
J. Neurol. Sci.
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1994
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Suthers G.,Laing N.,Wilton S.,Dorosz S.,Waddy H.
'Sporadic' motoneuron disease due to familial SOD1 mutation with low penetrance.
Lancet
344
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1994
101278
Jones C.T.,Shaw P.J.,Chari G.,Brock D.J.
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
Mol. Cell. Probes
8
329-330
1994
101279
Pramatarova A.,Figlewicz D.A.,Krizus A.,Han F.Y.,Ceballos-Picot I.,Nicole A.,Dib M.,Meininger V.,Brown R.H. Jr.,Rouleau G.A.
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
Am. J. Hum. Genet.
56
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1995
101280
Ikeda M.,Abe K.,Aoki M.,Ogasawara M.,Kameya T.,Watanabe M.,Shoji M.,Hirai S.,Itoyama Y.
A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis.
Hum. Mol. Genet.
4
491-492
1995
101281
Yulug I.G.,Katsanis N.,de Belleroche J.,Collinge J.,Fisher E.M.C.
An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.
Hum. Mol. Genet.
4
1101-1104
1995
101282
Sjaelander A.,Beckman G.,Deng H.-X.,Iqbal Z.,Tainer J.A.,Siddique T.
The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland.
Hum. Mol. Genet.
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1995
101283
Deng H.-X.,Tainer J.A.,Mitsumoto H.,Ohnishi A.,He X.,Hung W.-Y.,Zhao Y.,Juneja T.,Hentati A.,Siddique T.
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
Hum. Mol. Genet.
4
1113-1116
1995
101284
Orrell R.,de Belleroche J.,Marklund S.,Bowe F.,Hallewell R.
A novel SOD mutant and ALS.
Nature
374
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1995
101285
Andersen P.M.,Nilsson P.,Ala-Hurula V.,Keraenen M.-L.,Tarvainen I.,Haltia T.,Nilsson L.,Binzer M.,Forsgren L.,Marklund S.L.
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
Nat. Genet.
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1995
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Ikeda M.,Abe K.,Aoki M.,Sahara M.,Watanabe M.,Shoji M.,St George-Hyslop P.H.,Hirai S.,Itoyama Y.
Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene.
Neurology
45
2038-2042
1995
101287
Sapp P.C.,Rosen D.R.,Hosler B.A.,Esteban J.,McKenna-Yasek D.,O'Regan J.P.,Horvitz H.R.,Brown R.H. Jr.
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
Neuromuscul. Disord.
5
353-357
1995
101288
Hosler B.A.,Nicholson G.A.,Sapp P.C.,Chin W.,Orrell R.W.,de Belleroche J.S.,Esteban J.,Hayward L.J.,Mckenna-Yasek D.,Yeung L.,Cherryson A.K.,Dench J.E.,Wilton S.D.,Laing N.G.,Horvitz R.H.,Brown R.H. Jr.
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
Neuromuscul. Disord.
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1996
101289
Morita M.,Aoki M.,Abe K.,Hasegawa T.,Sakuma R.,Onodera Y.,Ichikawa N.,Nishizawa M.,Itoyama Y.
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
Neurosci. Lett.
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1996
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Watanabe M.,Aoki M.,Abe K.,Shoji M.,Lizuka T.,Ikeda Y.,Hirai S.,Kurokawa K.,Kato T.,Sasaki H.,Itoyama Y.
A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease.
Hum. Mutat.
9
69-71
1997
101291
Kawamata J.,Shimohama S.,Takano S.,Harada K.,Ueda K.,Kimura J.
Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
Hum. Mutat.
9
356-358
1997
101292
Orrell R.W.,Marklund S.L.,deBelleroche J.S.
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
J. Neurol. Sci.
153
46-49
1997
101293
Kikugawa K.,Nakano R.,Inuzuka T.,Kokubo Y.,Narita Y.,Kuzuhara S.,Yoshida S.,Tsuji S.
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.
Neurogenetics
1
113-115
1997
101294
Bereznai B.,Winkler A.,Borasio G.D.,Gasser T.
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
Neuromuscul. Disord.
7
113-116
1997
101295
Ratovitski T.,Corson L.B.,Strain J.,Wong P.,Cleveland D.W.,Culotta V.C.,Borchelt D.R.
Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
Hum. Mol. Genet.
8
1451-1460
1999
101296
Penco S.,Schenone A.,Bordo D.,Bolognesi M.,Abbruzzese M.,Bugiani O.,Ajmar F.,Garre C.
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
Neurology
53
404-406
1999
101298
Murakami T.,Warita H.,Hayashi T.,Sato K.,Manabe Y.,Mizuno S.,Yamane K.,Abe K.
A novel SOD1 gene mutation in familial ALS with low penetrance in females.
J. Neurol. Sci.
189
45-47
2001
101299
Gellera C.,Castellotti B.,Riggio M.C.,Silani V.,Morandi L.,Testa D.,Casali C.,Taroni F.,Di Donato S.,Zeviani M.,Mariotti C.
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
Neuromuscul. Disord.
11
404-410
2001
101300
Alexander M.D.,Traynor B.J.,Miller N.,Corr B.,Frost E.,McQuaid S.,Brett F.M.,Green A.,Hardiman O.
'True' sporadic ALS associated with a novel SOD-1 mutation.
Ann. Neurol.
52
680-683
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