Article
Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations.
Neurobiology of disease - 1 Nov 2024
Leykam Laura, Forsberg Karin M E, Nordström Ulrika, Hjertkvist Karin, Öberg Agneta, Jonsson Eva, Andersen Peter M, Marklund Stefan L, Zetterström Per
Abstract excerpt
Mutations in superoxide dismutase-1 (SOD1) are a cause of hereditary amyotrophic lateral sclerosis (ALS) through a gain-of-function mechanism involving unfolded mutant SOD1. Intrathecal gene therapy using the antisense-oligo-nucleotide drug tofersen to reduce SOD1 expression delays disease progression and has recently been approved in the United States and the European Union. However, the discovery of children...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.