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Loss-of-function mutation in human Oxidation Resistance gene 1 disrupts the spatial-temporal regulation of histone arginine methylation in early brain development

2022-05-24

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We report a loss-of-function mutation in the TLDc domain of human Oxidation Resistance 1 ( OXR1 ) gene, resulting in early-onset epilepsy, developmental delay, cognitive disabilities, and cerebellar atrophy. Patient lymphoblasts show impaired cell survival, proliferation, and hypersensitivity to oxidative stress. These phenotypes are rescued by TLDc domain replacement. We generated patient derived induced plurip...

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Literature Corpus work: ed1e58b1-58d9-5974-a2ce-2511a2b0e9ee
DOI: 10.1101/2022.05.24.493324

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Loss-of-function mutation in human <i>Oxidation Resistance gene 1</i> disrupts the spatial-temporal regulation of histone arginine methylation in early brain development

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