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Metabolic alterations in the absence of a detectable neuromuscular phenotype in novel genomically humanised <i> SOD1 <sup>A4V</sup> </i> mice

2025-05-04

Abstract excerpt

<h4>ABSTRACT</h4> Amyotrophic lateral sclerosis (ALS) caused by mutation in superoxide dismutase 1 ( SOD1 ) accounts for 15-30% of familial ALS and is typically autosomal dominant. How single base pair/amino acid changes in this small protein cause neurodegeneration is unknown. In North America, SOD1 A4V is the most common familial ALS SOD1 mutation and results in an aggressive form of ALS. Here, we present a...

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Literature Corpus work
b7608eee-194e-54aa-8272-4970f8ba9fdf
DOI
10.1101/2025.05.01.650597
Open publication

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Metabolic alterations in the absence of a detectable neuromuscular phenotype in novel genomically humanised <i> SOD1 <sup>A4V</sup> </i> miceDOI 10.1101/2025.05.01.650597
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