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Related to SOD1: SOD2, SOD3, G93A
SOD1superoxide dismutase 1 (gene)
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Mutant SOD1 directly interferes with snapin, an essential molecule that adheres endosomes to dynein motor proteins.
Gene therapy is another promising area of research, including lentiviral-mediated gene therapy for improving motor neuron survival or small interfering RNA therapy for silencing mutant SOD1 expression (Azzouz, 2006; Wang et al.
Daryl Bosco, assistant professor of neurology and lead author of the study, said in the release: "This common ALS pathology between sporadic and familial ALS means that current gene silencing and immunotherapeutic treatments being developed in academic and commercial labs that target the mutant SOD1 gene may be extended to target non-mutant SOD1 protein found in sporadic ALS cases.
If TDP-43 is the major pathway, then SOD1 was misdirecting us," says Christopher Shaw, a neurologist and neurogeneticist at King's College London.
Using an ALS rat model, which involves rats with SOD1 mutations, the team set out to determine if traumatic brain injuries contribute to ALS onset and shorter lifespans in rats.
Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.
The therapy reduces expression of a gene called SOD1, which in some cases of familial amyotrophic lateral sclerosis (ALS) has a mutation that weakens and kills nerve cells called motor neurons that control muscle movement.
neoformans, specifically, the nuclear loci CAP59, GPD1, IGS1, LAC1, PLB1, SOD1, and URA5 (9).
SOD1 superoxide dismutase 1, soluble [Homo sapiens; online document].
We agreed that the emerging technologies of human genetics offered new approaches, and it was this work that led to the identification of the first ALS gene, known as SOD1.
Horwich's research as part of the Consortium is focused on the role of the SOD1 gene, which has been associated with protein misfolding and has been shown to play a role in pathology of ALS.
The original study occurred within SOD1 gene mutations, but the team extended the research to test the effect of Retigabine on other iPS cell lines.