Mutations in all five exons of SOD-1 may cause ALS

Annals of Neurology

Volumn 43, Issue 3, 1998, Pages 390-394

  Shaw, C E ^a   Enayat, Z E ^a   Chioza, B A ^a   Al Chalabi, A ^a   Radunovic, A ^a   Powell, J F ^a   Leigh, P N ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SUPEROXIDE DISMUTASE;

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; HUMAN; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION; PEDIGREE; SUPEROXIDE DISMUTASE;

EID: 0031936175     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430319     Document Type: Article

References (19)

1. Haverkamp L, Appel V, Appel H. Natural history of amyotrophic lateral sclerosis in a database population: validation of a scoring system and a model for survival. Brain 1995;118:707-719
2. Strong MJ, Hudson AJ, Alvord WG. Familial amyotrophic lateral sclerosis, 1850-1989: a statistical analysis of the world literature. Can J Neurol Sci 1991;18:45-58
3. Deng H-X, Hentati A, Tainer J, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993;261:1047-1051
4. Rosen D, Siddique T, Patterson D, et al. Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-63
5. Levanon D, Lieman-Hurwitz J, Dafni N, et al. Architecture and anatomy of the chromosomal locus in human chromosome encoding the Cu/Zn superoxide dismutase gene. EMBO J 1985;4:77-84
6. Gurney M, Pu H, Chiu A, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994;264:1772-1775
7. Brown R. Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. Cell 1995;80:687-692
8. Bannister W, Bannister J, Barra D, et al. Evolutionary aspects of superoxide dismutase: the copper/zinc enzyme. Free Radic Res Comm 1991;12-13:349-361
9. Radunovic A, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996;61:565-572
10. Pramatorova A, Goto, Nanba E, et al. A two base-pair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:981-987
11. Zu JS, Deng H-X, Lo TP, et al. 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. Neurogenetics 1997;1:65-71
12. Siddique T, Nijhawan D, Hentati A. Molecular genetic basis of familial ALS. Neurology 1996;47(Suppl 2):27-35
13. Jackson M, Al-Chalabi A, Enayat ZE, et al. Copper zinc superoxide dismutase-1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of novel insertion mutation. Ann Neurol 1997;42:803-807
14. Enayat Z, Orrell R, Claus A, et al. Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 1995;4:1239-1240
15. Radunovic A, Shaw, CE, Akman-Demir G, et al. CuZn associated ALS. Ann Neurol 1997;42:273-274
16. Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997;41:210-221
17. Parge HE, Haliwell RA, Tainer JA. Atomic structures of wildtype and thermostable mutant recombinant human Cu,Zn superoxide dismutase. Proc Natl Acad Sci USA 1992;89:6109-6113
18. Radunovic A, Delves HT, Robberecht W, et al. Copper and zinc levels in familial amyotrophic lateral sclerosis patients with CuZn superoxide dismutase gene mutations. Ann Neurol 1997;42:130-131
19. Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated amyotrophic lateral sclerosis causes novel protein interactions. Nat Genet 1997;15:91-94