Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities

BACKGROUND: 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 enzy...

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Detalles Bibliográficos
Autores principales: Cheff, Dorian M., Muotri, Alysson R., Stockwell, Brent R., Schmidt, Edward E., Ran, Qitao, Kartha, Reena V., Johnson, Simon C., Mittal, Plavi, Arnér, Elias S. J., Wigby, Kristen M., Hall, Matthew D., Ramesh, Sanath Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542321/
https://www.ncbi.nlm.nih.gov/pubmed/34688299
http://dx.doi.org/10.1186/s13023-021-02048-0

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