SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)

2006 ◽  
Vol 16 (11) ◽  
pp. 800-804 ◽  
Author(s):  
L. Corrado ◽  
S. D’Alfonso ◽  
L. Bergamaschi ◽  
L. Testa ◽  
M. Leone ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Mutations ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Sod1 Gene ◽  
Lateral Sclerosis

SOD1 gene mutations in patients with amyotrophic lateral sclerosis: Potential of method of molecular modeling

2013 ◽  
Vol 47 (5) ◽  
pp. 751-757 ◽  
Author(s):  
E. V. Lysogorskaia ◽  
A. V. Rossokhin ◽  
N. Yu. Abramycheva ◽  
M. N. Zakharova ◽  
S. N. Illarioshkin
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Molecular Modeling ◽  
Gene Mutations ◽  
Sod1 Gene ◽  
Lateral Sclerosis

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

2012 ◽  
Vol 33 (5) ◽  
pp. 1015.e1-1015.e6 ◽  
Author(s):  
Rui Huang ◽  
Deng-Fu Fang ◽  
Ming-Yi Ma ◽  
Xiao-Yan Guo ◽  
Bi Zhao ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis

1998 ◽  
Vol 25 (3) ◽  
pp. 192-196 ◽  
Author(s):  
Y. Boukaftane ◽  
J. Khoris ◽  
B. Moulard ◽  
F. Salachas ◽  
V. Meininger ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Binding Sites ◽  
Autosomal Dominant ◽  
Gene Mutations ◽  
Premature Death ◽  
Sod1 Gene ◽  
Autosomal Dominant Trait ◽  
Superoxide Dismutase Gene ◽  
Lateral Sclerosis

ABSTRACT:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SODl) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+ binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SODl mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

Neurology ◽  
1996 ◽  
Vol 47 (5) ◽  
pp. 1336-1339 ◽  
Author(s):  
W. Robberecht ◽  
T. Aguirre ◽  
L. Van Den Bosch ◽  
P. Tilkin ◽  
J.J. Cassiman ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Sod1 Gene ◽  
Lateral Sclerosis
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