{"doi":"10.1101/2024.04.01.587645","title":"<i>MATRIN3</i> deficiency triggers autoinflammation via cGAS-STING activation","abstract":"Abstract Interferon-stimulated genes (ISGs) comprise a program of immune effectors important for host immune defense. When uncontrolled, ISGs play a central role in interferonopathies and other inflammatory diseases. The mechanisms responsible for turning on ISGs are not completely known. By investigating MATRIN3 (MATR3), a nuclear RNA-binding protein mutated in familial ALS, we found that perturbing MATR3 results in elevated expression of ISGs. Using an integrative approach, we elucidate a pathway that leads to activation of cGAS-STING. This outlines a plausible mechanism for pathogenesis in a subset of ALS, and suggests new diagnostic and therapeutic approaches for this fatal disease. One-Sentence Summary Mis-splicing of Tudor Domain Containing 3 ( TDRD3 ) in the absence of MATR3 unleashes R-loops and interferon-stimulated genes.","journal":"bioRxiv (Cold Spring Harbor Laboratory)","year":2024,"id":485105,"datarank":0.29188652235829704,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9552,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1073428,"name":"Ahsan Polash","orcid":null,"position":1,"is_corresponding":false},{"id":1190310,"name":"Masataka Suzawa","orcid":null,"position":2,"is_corresponding":false},{"id":428785,"name":"Bryan Chim","orcid":"0000-0002-5624-5248","position":3,"is_corresponding":false},{"id":1290183,"name":"Skyler Kuhn","orcid":null,"position":4,"is_corresponding":false},{"id":1328150,"name":"Sabrina Sultana","orcid":null,"position":5,"is_corresponding":false},{"id":1190311,"name":"Nicholas Cutrona","orcid":null,"position":6,"is_corresponding":false},{"id":723378,"name":"Patrick Smith","orcid":"0000-0003-2017-5468","position":7,"is_corresponding":false},{"id":243363,"name":"Juraj Kabát","orcid":"0000-0001-8636-542X","position":8,"is_corresponding":false},{"id":246602,"name":"Sundar Ganesan","orcid":"0000-0003-1132-2016","position":9,"is_corresponding":false},{"id":12599,"name":"Amir Foroushani","orcid":"0000-0003-2748-3009","position":10,"is_corresponding":false},{"id":246605,"name":"Markus Hafner","orcid":"0000-0002-4336-6518","position":11,"is_corresponding":false},{"id":428788,"name":"Stefan A. Muljo","orcid":"0000-0003-1013-446X","position":12,"is_corresponding":false},{"id":1189931,"name":"Zohirul Islam","orcid":"0009-0004-8746-0452","position":0,"is_corresponding":true}],"reference_count":28,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T02:07:47.633574Z","pmid":"38712171","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}