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Characterization of a patient-derived variant of GPX4 for precision therapy

GPX4, as the only enzyme in mammals capable of reducing esterified phospholipid hydroperoxides within a cellular context, protects cells from ferroptosis. We identified a homozygous point mutation in the GPX4 gene, resulting in an R152H coding mutation, in three patients with Sedaghatian-type spondy...

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Detalles Bibliográficos
Autores principales: Liu, Hengrui, Forouhar, Farhad, Seibt, Tobias, Saneto, Russell, Wigby, Kristen, Friedman, Jennifer, Xia, Xin, Shchepinov, Mikhail S., Ramesh, Sanath, Conrad, Marcus, Stockwell, Brent R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8712418/
https://www.ncbi.nlm.nih.gov/pubmed/34931062
http://dx.doi.org/10.1038/s41589-021-00915-2