Article

SOD1 Enzymatic Activity in CSF from ALS patients with and without <i>SOD1</i> mutations

2024-06-16

Abstract excerpt

Superoxide dismutase-1 (SOD1) mutations are a common cause of amyotrophic lateral sclerosis (ALS). Intrathecal gene therapy using the antisense-oligo-nucleotide drug tofersen to reduce SOD1 expression shows significant effects on disease progression and has recently been approved in the United States and the European Union. However, the discovery of children homozygous for four different inactivating SOD1 mutati...

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Literature Corpus work: 3d49c98a-6326-5dcd-b685-6f2e5df601c8
DOI: 10.1101/2024.06.15.599161

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