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Sensing of RNA stress by mTORC1 drives autoinflammation
Loss-of-function mutations in SKIV2L underlie trichohepatoenteric syndrome (THES2), a rare inborn error of immunity characterized by diarrhea, skin lesions, brittle hair, and immunodeficiency. SKIV2L is part of a multiprotein complex required for exosome-mediated RNA surveillance through RNA decay....
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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American Society for Clinical Investigation
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759772/ https://www.ncbi.nlm.nih.gov/pubmed/35040438 http://dx.doi.org/10.1172/JCI156119 |