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

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic <i>TREX1</i> 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 <i>TREX1</i>-related autoimmune diseases. Monoallelic <i>TREX1</i> mutations were ident...

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Bibliographic Details
Main Authors: Giulia Amico, Wayne O. Hemphill, Mariasavina Severino, Claudio Moratti, Rosario Pascarella, Marta Bertamino, Flavia Napoli, Stefano Volpi, Francesca Rosamilia, Sara Signa, Fred Perrino, Marialuisa Zedde, Isabella Ceccherini, on behalf of the Gaslini Stroke Study Group
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Genes
Subjects:
TREX1 disorders
CADASIL-like genetics
TREX1 functional assay
stroke genetics
monogenic stroke
small vessel disease
Online Access:https://www.mdpi.com/2073-4425/13/7/1179

Internet

https://www.mdpi.com/2073-4425/13/7/1179

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