Article

Development of Therapies for Rare Genetic Disorders of GPX4: Roadmap and Opportunities

2021-04-05

Abstract excerpt

<h4>Background: </h4> Extremely rare progressive diseases like Sedaghatian-type Spondylometaphyseal Dysplasia (SSMD) can be neonatally lethal and therefore go undiagnosed or are difficult to treat. Recent sequencing efforts have linked this disease to mutations in GPX4, with consequences in the resulting enzyme, glutathione peroxidase 4. This offers potential diagnostic and therapeutic avenues for those suffering...

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Literature Corpus work: 3a67cd64-2b53-5d45-9366-0debdab14ce3
DOI: 10.20944/preprints202104.0105.v1

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