50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

doi:10.1080/17482960802103107

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Article

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Aug 2008

Broom Wendy J, Greenway Matthew, Sadri-Vakili Ghazaleh, Russ Carsten, Auwarter Kristen E, Glajch Kelly E, Dupre Nicolas, Swingler Robert J, Purcell Shaun, Hayward Caroline, Sapp Peter C, McKenna-Yasek Diane, Valdmanis Paul N, Bouchard Jean-Pierre, Meininger Vincent, Hosler Betsy A, Glass Jonathan D, Polack Meraida, Rouleau Guy A, Cha Jang-Ho J, Hardiman Orla, Brown Robert H

Abstract excerpt

The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200...

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PMID: 18608091
DOI: 10.1080/17482960802103107

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SOD1
SP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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