Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations

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 progressi...

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Principais autores:	Laura Leykam, Karin M.E. Forsberg, Ulrika Nordström, Karin Hjertkvist, Agneta Öberg, Eva Jonsson, Peter M. Andersen, Stefan L. Marklund, Per Zetterström
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2024-11-01
Serija:	Neurobiology of Disease
Teme:	ALS Amyotrophic lateral sclerosis Cerebrospinal fluid SOD1 activity SOD1 loss-of-function
Online dostop:	http://www.sciencedirect.com/science/article/pii/S0969996124003206
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