SOD1 ELISA Kit for Human(Homo sapiens) | EIAab.comSOD1 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > SOD1(Gene name) > Human

SOD1 (Gene name),

Superoxide dismutase [Cu-Zn] (Protein name ), SODC_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Citations (3)

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Gene name:

SOD1;

Protein name:

Superoxide dismutase [Cu-Zn];

Alternative:

Superoxide dismutase 1(hSod1);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer; non-disulfide linked. Homodimerization may take place via the ditryptophan cross-link at Trp-33. The pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 interact with RNF19A, whereas wild-type protein does not. The pathogenic variants ALS1 Arg-86 and Ala-94 interact with MARCH5, whereas wild-type protein does not.

Function:

Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

Subcellular Location:

Cytoplasm The pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.

Protein Attributes:

Sequence length:

154

Sequence:

50:

100:

150:

154:

GIAQ

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

Pfam:

PF00080

MIM:

105400

STRING:

9606.ENSP00000270142

UniGene:

Hs.443914

SMR:

P00441

KEGG:

hsa:6647

String:

P00441

Uniprot:

P00441

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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E0596h

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96T

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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E0596r

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96T

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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E0596p

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96T

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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E0596b

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96T

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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E0596m

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96T

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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E0596d

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96T

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ELISA Kit for Human Superoxide dismutase [Cu-Zn]

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E0596c

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96T

CLIA Kit for Human Superoxide dismutase [Cu-Zn]

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U0596m

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96T

CLIA Kit for Human Superoxide dismutase [Cu-Zn]

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U0596d

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96T

CLIA Kit for Human Superoxide dismutase [Cu-Zn]

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CLIA Kit for Human Superoxide dismutase [Cu-Zn]

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U0596b

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96T

CLIA Kit for Human Superoxide dismutase [Cu-Zn]

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U0596r

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96T

CLIA Kit for Human Superoxide dismutase [Cu-Zn]

Cat.:

U0596h

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96T

CLIA Kit for Human Superoxide dismutase [Cu-Zn]

Cat.:

U0596p

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96T

CLIA Kit for Human Superoxide dismutase [Cu-Zn]

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U0596c

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96T

Polyclonal Antibody for Human Superoxide dismutase [Cu-Zn]

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P0596Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human Superoxide dismutase [Cu-Zn]

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P0596Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Superoxide dismutase [Cu-Zn]

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P0596Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human Superoxide dismutase [Cu-Zn]

Monoclonal Antibody for Human Superoxide dismutase [Cu-Zn]

Protein for Human Superoxide dismutase [Cu-Zn]

Cat.:

R0596h

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Packing:

1mg

Purity:

>90%

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Intra-assay Precision (Precision within an assay):Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.

Intra-Assay CV: ≤9.2%

Inter-assay Precision (Precision between assays):Three samples of known concentration were tested in five separate assays to assess inter-assay precision.

Inter-Assay CV: ≤11.9%

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery was determined by spiking various levels of SODC into serum and plasma .

Sample Type	Average(%)	Recovery Range(%)
Serum	100	94-106
Plasma	99	92-107

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

The linearity of the kit was assayed by testing samples spiked with appropriate concentration of SODC and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.

Sample	1：2	1:4	1:8	1:16
serum(n=5)	95-104%	97-103%	92-109%	94-107%
EDTA plasma(n=5)	92-106%	96-101%	91-107%	93-106%
heparin plasma(n=5)	93-103%	94-105%	94-105%	95-103%

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Citations

[1].

"Camel milk as a potential therapy as antioxidant in Autism Spectrum Disorder (ASD)"

Laila Y. Al-Ayadhi and Nadra Elyass Elamin

From:hindawi

[2].

"Alteration in the intrafollicular thiol–redox system in infertile women with endometriosis"

YS Choi, SH Cho, SK Seo, et al.

From:Reproduction

[3].

"Association between serum carcinoembryonic antigen level and oxidative stress parameters among diabetic females"

M Hasan, A Mohieldein

From:International journal of clinical and experimental medicine

References

1.

"Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA."
Sherman L. , Dafni N. , Lieman-Hurwitz J. , Groner Y.
Proc. Natl. Acad. Sci. U.S.A.80:5465-5469(1983) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
2.

"Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase."
Levanon D. , Lieman-Hurwitz J. , Dafni N. , Wigderson M. , Sherman L. , Bernstein Y. , Laver-Rudich Z. , Danciger E. , Stein O. , Groner Y.
EMBO J.4:77-84(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.

"Human Cu/Zn superoxide dismutase cDNA: isolation of clones synthesising high levels of active or inactive enzyme from an expression library."
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.
Nucleic Acids Res.13:2017-2034(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
4.

"Comparison of properties between human recombinant and placental copper-zinc SOD."
Kajihara J. , Enomoto M. , Nishijima K. , Yabuuchi M. , Katoh K.
J. Biochem.104:851-854(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
5.

Xu Y. , Hu X. , Zhou Y. , Peng X. , Yuan J. , Qiang B.
Submitted (2001-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
6.

Lu X. , Hui L.
Submitted (2003-10) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
7.

"Direct sequencing and cloning of superoxide dismutase 1 from peripheral blood."
Staege M.S. , Bergmann S. , Heins S.
Submitted (2006-11) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
8.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Colon.
9.

"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L. , Schick M. , Neubert P. , Schatten R. , Henze S. , Korn B.
Submitted (2004-05) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
10.

"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Halleck A. , Ebert L. , Mkoundinya M. , Schick M. , Eisenstein S. , Neubert P. , Kstrang K. , Schatten R. , Shen B. , Henze S. , Mar W. , Korn B. , Zuo D. , Hu Y. , LaBaer J.
Submitted (2004-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
11.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2004-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
12.

NIEHS SNPs program
Submitted (2004-11) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
13.

"The DNA sequence of human chromosome 21."
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. , more...
Nature405:311-319(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
14.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
15.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Placenta.
16.

"Some sulfhydryl properties and primary structure of human erythrocyte superoxide dismutase."
Jabusch J.R. , Farb D.L. , Kerschensteiner D.A. , Deutsch H.F.
Biochemistry19:2310-2316(1980) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 2-154
17.

"The complete amino acid sequence of human Cu/Zn superoxide dismutase."
Barra D. , Martini F. , Bannister J.V. , Schinina M.E. , Rotilio G. , Bannister W.H. , Bossa F.
FEBS Lett.120:53-56(1980) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 2-154;CLEAVAGE OF INITIATOR METHIONINE;ACETYLATION AT ALA-2
18.

Lubec G. , Chen W.-Q. , Sun Y.
Submitted (2008-12) to the UniProtKB

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 11-24 AND 81-116
tissue: Fetal brain cortex.
19.

"Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis."
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.
Hum. Mol. Genet.4:1239-1240(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 25-56 AND 120-154;VARIANTS ALS1 GLN-49; ARG-94; THR-113; THR-114; HIS-126 AND THR-150
20.

"Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis."
Kostrzewa M. , Daamian M. , Mueller U.
Hum. Genet.98:48-50(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 120-154;VARIANT ALS1 THR-152
21.

"The unusually stable quaternary structure of human Cu,Zn-superoxide dismutase 1 is controlled by both metal occupancy and disulfide status."
Arnesano F. , Banci L. , Bertini I. , Martinelli M. , Furukawa Y. , O'Halloran T.V.
J. Biol. Chem.279:47998-48003(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBUNIT;DISULFIDE BOND
22.

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-99;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
23.

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C. , Kumar C. , Gnad F. , Nielsen M.L. , Rehman M. , Walther T.C. , Olsen J.V. , Mann M.
Science325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-123;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
24.

"A ditryptophan cross-link is responsible for the covalent dimerization of human superoxide dismutase 1 during its bicarbonate-dependent peroxidase activity."
Medinas D.B. , Gozzo F.C. , Santos L.F. , Iglesias A.H. , Augusto O.
Free Radic. Biol. Med.49:1046-1053(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBUNIT;DITRYPTOPHAN CROSS-LINK AT TRP-33
25.

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
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.
Sci. Signal.3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-99;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
26.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
27.

"Endothelial cell palmitoylproteomic identifies novel lipid-modified targets and potential substrates for protein acyl transferases."
Marin E.P. , Derakhshan B. , Lam T.T. , Davalos A. , Sessa W.C.
Circ. Res.110:1336-1344(2012) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PALMITOYLATION AT CYS-7;SUBCELLULAR LOCATION;MUTAGENESIS OF CYS-7
28.

"SIRT5 desuccinylates and activates SOD1 to eliminate ROS."
Lin Z.F. , Xu H.B. , Wang J.Y. , Lin Q. , Ruan Z. , Liu F.B. , Jin W. , Huang H.H. , Chen X.
Biochem. Biophys. Res. Commun.441:191-195(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUCCINYLATION AT LYS-123;DESUCCINYLATION BY SIRT5;MUTAGENESIS OF LYS-123
29.

"Mechanistic aspects of hSOD1 maturation from the solution structure of Cu(I) -loaded hCCS domain 1 and analysis of disulfide-free hSOD1 mutants."
Banci L. , Cantini F. , Kozyreva T. , Rubino J.T.
ChemBioChem14:1839-1844(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MUTAGENESIS OF CYS-58 AND CYS-147
30.

"Atomic structures of wild-type and thermostable mutant recombinant human Cu,Zn superoxide dismutase."
Parge H.E. , Hallewell R.A. , Tainer J.A.
Proc. Natl. Acad. Sci. U.S.A.89:6109-6113(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS)
31.

"Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis."
Hart P.J. , Liu H. , Pellegrini M. , Nersissian A.M. , Gralla E.B. , Valentine J.S. , Eisenberg D.
Protein Sci.7:545-555(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF VARIANT ALS1 ARG-38
32.

"Solution structure of reduced monomeric Q133M2 copper, zinc superoxide dismutase (SOD). Why is SOD a dimeric enzyme?"
Banci L. , Benedetto M. , Bertini I. , del Conte R. , Piccioli M. , Viezzoli M.S.
Biochemistry37:11780-11791(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR
33.

"The crystal structure of the monomeric human SOD mutant F50E/G51E/E133Q at atomic resolution. The enzyme mechanism revisited."
Ferraroni M. , Rypniewski W. , Wilson K.S. , Viezzoli M.S. , Banci L. , Bertini I. , Mangani S.
J. Mol. Biol.288:413-426(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.02 ANGSTROMS) OF MUTANT GLU-51/GLU-52/GLN-134;SUBUNIT;MUTAGENESIS OF 51-PHE-GLY-52 AND GLU-134
34.

"Solution structure of Apo Cu,Zn superoxide dismutase: role of metal ions in protein folding."
Banci L. , Bertini I. , Cramaro F. , Del Conte R. , Viezzoli M.S.
Biochemistry42:9543-9553(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF MUTANT GLU51/GLU-52/GLN-134;SUBUNIT
35.

"ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization."
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.
J. Mol. Biol.332:601-615(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) IN COMPLEX WITH COPPER AND ZINC IONS;DISULFIDE BOND;SUBUNIT;CHARACTERIZATION OF VARIANTS ALS1 VAL-5 AND ARG-44
36.

"Amyloid-like filaments and water-filled nanotubes formed by SOD1 mutant proteins linked to familial ALS."
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.
Nat. Struct. Biol.10:461-467(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.3 ANGSTROMS) OF VARIANTS ALS1 ASN-135 AND ARG-47;FORMATION OF FIBRILLAR AGGREGATES
37.

"Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants."
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.
Proc. Natl. Acad. Sci. U.S.A.101:5976-5981(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF VARIANTS ALS1 VAL-5 AND THR-114;CHARACTERIZATION OF VARIANTS ALS1 VAL-5 AND THR-114
38.

"Human SOD1 before harboring the catalytic metal: solution structure of copper-depleted, disulfide-reduced form."
Banci L. , Bertini I. , Cantini F. , D'Amelio N. , Gaggelli E.
J. Biol. Chem.281:2333-2337(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF MUTANT ALA-7/SER-112;SUBUNIT
39.

"Variable metallation of human superoxide dismutase: atomic resolution crystal structures of Cu-Zn, Zn-Zn and as-isolated wild-type enzymes."
Strange R.W. , Antonyuk S.V. , Hough M.A. , Doucette P.A. , Valentine J.S. , Hasnain S.S.
J. Mol. Biol.356:1152-1162(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.07 ANGSTROMS) IN COMPLEXES WITH COPPER AND ZINC IONS;DISULFIDE BOND;SUBUNIT
40.

"The coupling between disulphide status, metallation and dimer interface strength in Cu/Zn superoxide dismutase."
Hoernberg A. , Logan D.T. , Marklund S.L. , Oliveberg M.
J. Mol. Biol.365:333-342(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF MUTANTS ALA-7/ALA-112 AND ALA-7/ALA-58/ALA-112/ALA-147;MUTAGENESIS OF CYS-7; CYS-58; CYS-112 AND CYS-147
41.

"Structural characterization of zinc-deficient human superoxide dismutase and implications for ALS."
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.
J. Mol. Biol.373:877-890(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF MUTANT SER-81/SER-84 IN COMPLEX WITH COPPER IONS;SUBUNIT;MUTAGENESIS OF HIS-81 AND ASP-84;COFACTOR
42.

"Molecular dynamics using atomic-resolution structure reveal structural fluctuations that may lead to polymerization of human Cu-Zn superoxide dismutase."
Strange R.W. , Yong C.W. , Smith W. , Hasnain S.S.
Proc. Natl. Acad. Sci. U.S.A.104:10040-10044(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.15 ANGSTROMS) IN COMPLEX WITH COPPER AND ZINC IONS;SUBUNIT;FORMATION OF FIBRILLAR AGGREGATES BY ZINC-DEPLETED SOD1
43.

"Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis."
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.
J. Biol. Chem.283:16169-16177(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.3 ANGSTROMS) OF VARIANT ALS1 ARG-86;CHARACTERIZATION OF VARIANT ALS1 ARG-86
44.

"Crystal structure of human Cu-Zn superoxide dismutase mutant G85R (P21)."
RIKEN structural genomics initiative (RSGI)
Submitted (2008-04) to the PDB data bank

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF VARIANT ALS1 ARG-86
45.

"Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments."
de Belleroche J. , Orrell R. , King A.
J. Med. Genet.32:841-847(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
46.

"Structures of mouse SOD1 and human/mouse SOD1 chimeras."
Seetharaman S.V. , Taylor A.B. , Holloway S. , Hart P.J.
Arch. Biochem. Biophys.503:183-190(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.20 ANGSTROMS) OF 2-154 IN COMPLEX WITH ZINC
47.

"Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis."
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. , more...
Nature362:59-62(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1
48.

Rosen D.R.
Nature364:362-362(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
49.

"Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase."
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. , more...
Science261:1047-1051(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1
50.

"A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis."
Nakano R. , Sato S. , Inuzuka T. , Sakimura K. , Mishina M. , Takahashi H. , Ikuta F. , Honma Y. , Fujii J. , Taniguchi N. , Tsuji S.
Biochem. Biophys. Res. Commun.200:695-703(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 THR-5
51.

"A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis."
Hirano M. , Fujii J. , Nagai Y. , Sonobe M. , Okamoto K. , Araki H. , Taniguchi N. , Ueno S.
Biochem. Biophys. Res. Commun.204:572-577(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 GLU-8
52.

"Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others."
Jones C.T. , Swinger R.J. , Brock D.J.H.
Hum. Mol. Genet.3:649-650(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 LYS-22
53.

"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. , 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.
Hum. Mol. Genet.3:997-998(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1 ASP-94 AND THR-113
54.

"Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene."
Kostrzewa M. , Burck-Lehmann U. , Mueller U.
Hum. Mol. Genet.3:2261-2262(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 GLY-116
55.

"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. , Ogasawara M. , Matsubara Y. , Narisawa K. , Nakamura S. , Itoyama Y. , Abe K.
J. Neurol. Sci.126:77-83(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ARG-47
56.

"'Sporadic' motoneuron disease due to familial SOD1 mutation with low penetrance."
Suthers G. , Laing N. , Wilton S. , Dorosz S. , Waddy H.
Lancet344:1773-1773(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 THR-114
57.

"Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient."
Jones C.T. , Shaw P.J. , Chari G. , Brock D.J.
Mol. Cell. Probes8:329-330(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ASN-102
58.

"Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis."
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.
Am. J. Hum. Genet.56:592-596(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1
59.

"A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis."
Ikeda M. , Abe K. , Aoki M. , Ogasawara M. , Kameya T. , Watanabe M. , Shoji M. , Hirai S. , Itoyama Y.
Hum. Mol. Genet.4:491-492(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ILE-149
60.

"An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4."
Yulug I.G. , Katsanis N. , de Belleroche J. , Collinge J. , Fisher E.M.C.
Hum. Mol. Genet.4:1101-1104(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 GLY-102
61.

"The D90A mutation results in a polymorphism of Cu,Zn superoxide dismutase that is prevalent in northern Sweden and Finland."
Sjaelander A. , Beckman G. , Deng H.-X. , Iqbal Z. , Tainer J.A. , Siddique T.
Hum. Mol. Genet.4:1105-1108(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ALA-91
62.

"Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis."
Deng H.-X. , Tainer J.A. , Mitsumoto H. , Ohnishi A. , He X. , Hung W.-Y. , Zhao Y. , Juneja T. , Hentati A. , Siddique T.
Hum. Mol. Genet.4:1113-1116(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1 MET-15 AND VAL-85
63.

"A novel SOD mutant and ALS."
Orrell R. , de Belleroche J. , Marklund S. , Bowe F. , Hallewell R.
Nature374:504-505(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ARG-94
64.

"Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase."
Andersen P.M. , Nilsson P. , Ala-Hurula V. , Keraenen M.-L. , Tarvainen I. , Haltia T. , Nilsson L. , Binzer M. , Forsgren L. , Marklund S.L.
Nat. Genet.10:61-66(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ALA-91
65.

"Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene."
Ikeda M. , Abe K. , Aoki M. , Sahara M. , Watanabe M. , Shoji M. , St George-Hyslop P.H. , Hirai S. , Itoyama Y.
Neurology45:2038-2042(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 PHE-105
66.

"Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis."
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.
Neuromuscul. Disord.5:353-357(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1 SER-145; THR-146 AND PHE-LEU-GLN-119 INS
67.

"Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis."
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.
Neuromuscul. Disord.6:361-366(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1 VAL-94; VAL-125 AND GLU-134 DEL
68.

"A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan."
Morita M. , Aoki M. , Abe K. , Hasegawa T. , Sakuma R. , Onodera Y. , Ichikawa N. , Nishizawa M. , Itoyama Y.
Neurosci. Lett.205:79-82(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 PHE-7
69.

"A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease."
Watanabe M. , Aoki M. , Abe K. , Shoji M. , Lizuka T. , Ikeda Y. , Hirai S. , Kurokawa K. , Kato T. , Sasaki H. , Itoyama Y.
Hum. Mutat.9:69-71(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ASN-135
70.

"Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis."
Kawamata J. , Shimohama S. , Takano S. , Harada K. , Ueda K. , Kimura J.
Hum. Mutat.9:356-358(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 SER-17
71.

"Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser)."
Orrell R.W. , Marklund S.L. , deBelleroche J.S.
J. Neurol. Sci.153:46-49(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 SER-73
72.

"A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan."
Kikugawa K. , Nakano R. , Inuzuka T. , Kokubo Y. , Narita Y. , Kuzuhara S. , Yoshida S. , Tsuji S.
Neurogenetics1:113-115(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 THR-114
73.

"A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis."
Bereznai B. , Winkler A. , Borasio G.D. , Gasser T.
Neuromuscul. Disord.7:113-116(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 GLN-9
74.

"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. , Corson L.B. , Strain J. , Wong P. , Cleveland D.W. , Culotta V.C. , Borchelt D.R.
Hum. Mol. Genet.8:1451-1460(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS ALS1 VAL-5; ARG-38; ARG-47; GLN-49; ARG-86 AND THR-114
75.

"A SOD1 gene mutation in a patient with slowly progressing familial ALS."
Penco S. , Schenone A. , Bordo D. , Bolognesi M. , Abbruzzese M. , Bugiani O. , Ajmar F. , Garre C.
Neurology53:404-406(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ARG-13
76.

Penco S. , Schenone A. , Bordo D. , Bolognesi M. , Abbruzzese M. , Bugiani O. , Ajmar F. , Garre C.
Neurology57:1146-1146(2001)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
77.

"A novel SOD1 gene mutation in familial ALS with low penetrance in females."
Murakami T. , Warita H. , Hayashi T. , Sato K. , Manabe Y. , Mizuno S. , Yamane K. , Abe K.
J. Neurol. Sci.189:45-47(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 SER-127
78.

"Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations."
Gellera C. , Castellotti B. , Riggio M.C. , Silani V. , Morandi L. , Testa D. , Casali C. , Taroni F. , Di Donato S. , Zeviani M. , Mariotti C.
Neuromuscul. Disord.11:404-410(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 CYS-46
79.

"'True' sporadic ALS associated with a novel SOD-1 mutation."
Alexander M.D. , Traynor B.J. , Miller N. , Corr B. , Frost E. , McQuaid S. , Brett F.M. , Green A. , Hardiman O.
Ann. Neurol.52:680-683(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 ALA-81
80.

"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.277:36793-36798(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS ALS1 ARG-38; ARG-47; ARG-86 AND ALA-94;INTERACTION WITH RNF19A;UBIQUITINATION
81.

"Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes."
Andersen P.M. , Sims K.B. , Xin W.W. , Kiely R. , O'Neill G. , Ravits J. , Pioro E. , Harati Y. , Brower R.D. , Levine J.S. , Heinicke H.U. , Seltzer W. , Boss M. , Brown R.H. Jr.
Amyotroph. Lateral Scler.4:62-73(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALS1 VAL-9; CYS-21; LEU-23; ARG-49; ARG-55; ALA-88; THR-90; MET-98; LEU-119; GLY-125 AND ARG-148
82.

"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 T.V. , Nukina N.
J. Biol. Chem.283:24167-24176(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS ALS1 ARG-38; ARG-86 AND ARG-94;MUTAGENESIS OF CYS-7; 51-PHE-GLY-52; CYS-58; HIS-81; ASP-84; CYS-112 AND CYS-147;IDENTIFICATION BY MASS SPECTROMETRY
83.

"SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization."
Banci L. , Bertini I. , Boca M. , Girotto S. , Martinelli M. , Valentine J.S. , Vieru M.
PLoS ONE3:E1677-E1677(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS ALS1 ARG-55; ALA-91; ALA-94; ASP-94; MET-98 AND PHE-145
84.

"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. Cell20:4524-4530(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS ALS1 ARG-86 AND ALA-94;UBIQUITINATION BY MARCH5;SUBCELLULAR LOCATION
85.

"A novel L67P SOD1 mutation in an Italian ALS patient."
del Grande A. , Luigetti M. , Conte A. , Mancuso I. , Lattante S. , Marangi G. , Stipa G. , Zollino M. , Sabatelli M.
Amyotroph. Lateral Scler.12:150-152(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 PRO-68
86.

"Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene."
Chio A. , Borghero G. , Pugliatti M. , Ticca A. , Calvo A. , Moglia C. , Mutani R. , Brunetti M. , Ossola I. , Marrosu M.G. , Murru M.R. , Floris G. , Cannas A. , Parish L.D. , Cossu P. , Abramzon Y. , Johnson J.O. , Nalls M.A. , more...
Arch. Neurol.68:594-598(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALS1 GLY-96

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