Article

A novel variant in <i>ADPRS</i> disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure

2024-06-14

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> ADP-ribosylation is a post-translational modification involving the transfer of one or more ADP-ribose units from NAD+ to target proteins. Dysregulation of ADP-ribosylation is implicated in neurodegenerative diseases. Here we report a novel homozygous variant in the ADPRS gene (c.545A>G, p.His182Arg) encoding the mono(ADP-ribosyl) hydrolase ARH3 found in 2 patients with childh...

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Literature Corpus work: 70775101-60e7-5293-9328-adc120123419
DOI: 10.1101/2024.06.14.597428

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