Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core

The TREX1 exonuclease degrades DNA to prevent aberrant nucleic-acid sensing through the cGAS-STING pathway, and dominant Aicardi–Goutières Syndrome type 1 (AGS1) represents one of numerous TREX1-related autoimmune diseases. Monoallelic TREX1 mutations were identified in patients showing early-onset...

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Detalles Bibliográficos
Autores principales: Amico, Giulia, Hemphill, Wayne O., Severino, Mariasavina, Moratti, Claudio, Pascarella, Rosario, Bertamino, Marta, Napoli, Flavia, Volpi, Stefano, Rosamilia, Francesca, Signa, Sara, Perrino, Fred, Zedde, Marialuisa, Ceccherini, Isabella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323106/
https://www.ncbi.nlm.nih.gov/pubmed/35885962
http://dx.doi.org/10.3390/genes13071179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323106/
https://www.ncbi.nlm.nih.gov/pubmed/35885962
http://dx.doi.org/10.3390/genes13071179

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