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Mutations in superoxide dismutase 1 gene (sod1) are linked to amyotrophic lateral sclerosis (als), a neurodegenerative disorder predominantly affecting upper and lower motor neurons Moreover, these mutations are found in the exon regions, suggesting that their toxic effects are the consequence. Abstract amyotrophic lateral sclerosis (als) is a fatal neurodegenerative disorder characterized by the loss of motor neurons in the brain and spinal cord
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While the exact causes of als are still unclear, the discovery that familial cases of als are related to mutations in the cu/zn superoxide dismutase (sod1), a key antioxidant enzyme protecting cells from the deleterious effects of. In 1993, rosen and collaborators discovered that the gene encoding sod1 has mutations in amyotrophic lateral sclerosis (als) patients Pathogenic variants in the superoxide dismutase 1 (sod1) gene were the first identified genetic cause of amyotrophic lateral sclerosis (als), in 1993
This discovery enabled the development of transgenic rodent models for studying the biology of sod1 als
The intrathecally administered antisense oligonucleotide tofersen reduces synthesis of the superoxide dismutase 1 (sod1) protein and is being studied in patients with amyotrophic lateral sclerosis. The als association remains committed to supporting further advancements in research, advocating for access to treatments, and ensuring that all people living with als can benefit from innovative therapies like qalsody View the study on pubmed about the als association the als association is the largest als organization in the world.