HtrA2/Omi-immunoreactive intraneuronal inclusions in the anterior horn of patients with sporadic and Cu/Zn superoxide dismutase (SOD1) mutant amyotrophic lateral sclerosis

2010 ◽  
Vol 36 (4) ◽  
pp. 331-344 ◽  
Author(s):  
Y. Kawamoto ◽  
H. Ito ◽  
Y. Kobayashi ◽  
Y. Suzuki ◽  
I. Akiguchi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Superoxide Dismutase ◽  
Anterior Horn ◽  
Sod1 Mutant ◽  
Lateral Sclerosis

scholarly journals 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

1998 ◽  
Vol 95 (16) ◽  
pp. 9631-9636 ◽  
Author(s):  
Toni L. Williamson ◽  
Lucie I. Bruijn ◽  
Qinzhang Zhu ◽  
Karen L. Anderson ◽  
Scott D. Anderson ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Superoxide Dismutase ◽  
Motor Neurons ◽  
Selective Vulnerability ◽  
Superoxide Dismutase 1 ◽  
Filament Assembly ◽  
Progression Of Disease ◽  
Familial Als ◽  
Sod1 Mutant ◽  
Lateral Sclerosis

Mutations in superoxide dismutase 1 (SOD1), the only proven cause of amyotrophic lateral sclerosis (ALS), provoke disease through an unidentified toxic property. Neurofilament aggregates are pathologic hallmarks of both sporadic and SOD1-mediated familial ALS. By deleting NF-L, the major neurofilament subunit required for filament assembly, onset and progression of disease caused by familial ALS-linked SOD1 mutant G85R are significantly slowed, while selectivity of mutant-mediated toxicity for motor neurons is reduced. In NF-L-deleted animals, levels of the two remaining neurofilament subunits, NF-M and NF-H, are markedly reduced in axons but are elevated in motor neuron cell bodies. Thus, while neither perikaryal nor axonal neurofilaments are essential for SOD1-mediated disease, the absence of assembled neurofilaments both diminishes selective vulnerability and slows SOD1G85R mutant-mediated toxicity to motor neurons.

Two novel mutations in the gene for coppe zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

1995 ◽  
Vol 4 (7) ◽  
pp. 1239-1240 ◽  
Author(s):  
Z. E. Enayat ◽  
R. W. Orrell ◽  
A. Claus ◽  
A. Ludolph ◽  
R. Bachus ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Superoxide Dismutase ◽  
Novel Mutations ◽  
Zinc Superoxide Dismutase ◽  
Lateral Sclerosis

scholarly journals Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis

2011 ◽  
Vol 121 (5) ◽  
pp. 623-634 ◽  
Author(s):  
Karin Forsberg ◽  
Peter M. Andersen ◽  
Stefan L. Marklund ◽  
Thomas Brännström
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Superoxide Dismutase ◽  
Superoxide Dismutase 1 ◽  
Lateral Sclerosis

Computational investigation of the human SOD1 mutant, Cys146Arg, that directs familial amyotrophic lateral sclerosis

2017 ◽  
Vol 13 (8) ◽  
pp. 1495-1503 ◽  
Author(s):  
E. Srinivasan ◽  
R. Rajasekaran
Keyword(s):  
Molecular Dynamics ◽  
Amyotrophic Lateral Sclerosis ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Computational Investigation ◽  
Conformational Preferences ◽  
Dynamics Simulations ◽  
Sod1 Mutant ◽  
Human Sod1 ◽  
Lateral Sclerosis ◽  
Computational Predictions

Molecular dynamics simulations along with the computational predictions used to assess the protein structural characterization as well as the conformational preferences of the monomeric native and mutant SOD1.

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