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How single amino acid changes in this small protein cause neurodegeneration is unknown. In North America, SOD1A5V is the most common familial SOD1 mutation and results in an aggressive form of amyotrophic lateral sclerosis. Here, we present a novel genomically humanized mouse model of SOD1A5V, in which the mouse Sod1 locus has been replaced by the human SOD1 gene, with intact genomic architecture of exons and introns, but bearing an A5\u2005V mutation. In agreement with previously reported human genomic knock-in mice, the phenotype is mild; however, transcriptomic and metabolomic profiling reveal significant dysregulation of glycolysis, the tricarboxylic acid cycle, and lipid metabolism. These changes suggest an early bioenergetic imbalance that precedes neuromuscular impairment. Our findings support metabolic dysfunction as an early event in amyotrophic lateral sclerosis pathogenesis. This freely available SOD1A5V model provides a valuable tool for studying amyotrophic lateral sclerosis progression and identifying therapeutic targets for pre-symptomatic treatment.<\/jats:p>","DOI":"10.1093\/braincomms\/fcag302","type":"journal-article","created":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T10:42:09Z","timestamp":1789641729000},"source":"Crossref","is-referenced-by-count":0,"title":["Metabolic alterations in the absence of a neuromuscular phenotype in humanized\n                    <i>SOD1A5V<\/i>\n                    mice"],"prefix":"10.1093","volume":"8","author":[{"given":"David","family":"Thompson","sequence":"first","affiliation":[{"name":"Mary Lyon Centre at MRC Harwell , Harwell OX11 0RD ,","place":["UK"]},{"name":"Nuffield Department of Clinical Neurosciences, University of Oxford , Oxford OX3 9DU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Medical and Translational Biology, Faculty of Medicine, Ume\u00e5 University , Ume\u00e5 901 87 ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Price","sequence":"additional","affiliation":[{"name":"Mary Lyon Centre at MRC Harwell , Harwell OX11 0RD ,","place":["UK"]},{"name":"Nuffield Department of Clinical Neurosciences, University of Oxford , Oxford OX3 9DU ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7651-7442","authenticated-orcid":false,"given":"Andrew P","family":"Tosolini","sequence":"additional","affiliation":[{"name":"UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL , London WC1N 3BG ,","place":["UK"]},{"name":"UK Dementia Research Institute, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"Falker-Gieske","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, Georg-August-University , G\u00f6ttingen 37077 ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan D","family":"Gilthorpe","sequence":"additional","affiliation":[{"name":"Department of Medical and Translational Biology, Faculty of Medicine, Ume\u00e5 University , Ume\u00e5 901 87 ,","place":["Sweden"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4319-8745","authenticated-orcid":false,"given":"Giampietro","family":"Schiavo","sequence":"additional","affiliation":[{"name":"UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL , London WC1N 3BG ,","place":["UK"]},{"name":"UK Dementia Research Institute, University College London , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2850-9936","authenticated-orcid":false,"given":"Elizabeth M C","family":"Fisher","sequence":"additional","affiliation":[{"name":"Mary Lyon Centre at MRC Harwell , Harwell OX11 0RD ,","place":["UK"]},{"name":"UCL Queen Square Motor Neuron Disease Centre and Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, UCL , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4751-3140","authenticated-orcid":false,"given":"Thomas J","family":"Cunningham","sequence":"additional","affiliation":[{"name":"Mary Lyon Centre at MRC Harwell , Harwell OX11 0RD ,","place":["UK"]},{"name":"Institute of Prion Diseases, MRC Prion Unit, UCL , London W1W 7FF 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