Article

Disruption of CAD oligomerization by pathogenic variants

2024-07-30

Abstract excerpt

<h4>ABSTRACT</h4> CAD is a multi-enzymatic protein essential for initiating the de novo biosynthesis of pyrimidine nucleotides, forming large hexamers whose structure and function are not fully understood. Defects in CAD result in a severe neurometabolic disorder that is challenging to diagnose. We developed a cellular functional assay to identify defective CAD variants, and in this study, we characterized five p...

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Literature Corpus work: dbe6f640-e390-5df5-930d-cb71f67424e3
DOI: 10.1101/2024.07.30.605799

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