Article
Treatment with 2-phospho-L-ascorbic acid mitigates biochemical phenotypes of heme oxygenase 1 deficiency
2024-07-07
Abstract excerpt
<h4>ABSTRACT</h4> Heme oxygenase 1 (HO-1) deficiency is a fatal genetic disorder characterized by impaired heme catabolism, leading to excessive oxidative damage and cell death. Despite evidence from non-human models suggesting mitochondrial dysfunction, the precise pathomechanisms in humans remain unclear, resulting in a lack of effective treatments. Using patient-derived lymphoblastoid cells and HO-1 knockout H...
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Identifiers and source
- Literature Corpus work
- 5d269ede-9eb7-530a-8ff9-6cfac9e3432f
- DOI
- 10.1101/2024.07.05.602073
