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Article

The SLE-associated TREX1-P212fs mutation disrupts ER association leading to type I interferonopathy.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Dec 2024

Xu Shan, Xiao Nanyang, Du Hekang, Zhou Xueyuan, Huang Miaohui, Feng Sisi, Hu Shun, Zhang Xiaoxiong, Zhang Sitong, Cui Dongya, Zhang Sheng, Chen Qi

Abstract excerpt

The TREX1 gene encodes a highly efficient DNA exonuclease that plays an important role in maintaining DNA homeostasis in the cytoplasm. TREX1 mutations lead to a spectrum of type I interferonopathies that are characterized by systemic inflammation, high blood levels of autoantibodies, and spontaneously activated immunity. The TREX1-P212fs mutation is thought to be linked to systemic lupus erythematosus (SLE)....

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PMID: 39621297
DOI: 10.1096/fj.202401579R

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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