ArticleNature genetics2009
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Article in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
77 citing papers in PubMed, 152 citations in OpenAlex.
- Inhibition of a magnesium-sensitive double-stranded RNA clearance machinery boosts cancer immunotherapy.Cell research · 2026Article
- Restorative macrophage-derived RNAseT2 stimulates muscle stem cell fusion via an SLK/N-WASP/actin bundling dependent axis.Nature communications · 2026Article
- No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.European journal of immunology · 2026Article
- ATAD3 duplications bridge mitochondrial diseases and Aicardi-Goutières syndrome.Developmental medicine and child neurology · 2026Article
- Unlocking microglia pyroptosis in a model of type I interferon-driven neuroinflammation: lessons from Rnaset2Cell death & disease · 2025Article
- The lysosomal catabolism of nucleic acids-critical regulators of the innate immune system.Nucleic acids research · 2025Review
- Article
- Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.Developmental medicine and child neurology · 2025Review
- DHX8 regulates degradation of RNA by RNautophagy.Nucleic acids research · 2025Article
- Innate immune responses to lysosomal nucleic acid stress.Journal of biochemistry · 2025Review
- Nucleic acid triggers of autoimmunity and autoinflammation.Current opinion in immunology · 2025Review
- RNase T2 restricts TLR13-mediated autoinflammation in vivo.The Journal of experimental medicine · 2025Article
- RNase T2 deficiency promotes TLR13-dependent replenishment of tissue-protective Kupffer cells.The Journal of experimental medicine · 2025Article
- Macrophage transplantation rescues RNASET2-deficient leukodystrophy by replacing deficient microglia in a zebrafish model.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Endosomal Toll-Like Receptors as Therapeutic Targets for Autoimmune Diseases.Advances in experimental medicine and biology · 2024Article
- Epididymal RNase T2 contributes to astheno-teratozoospermia and intergenerational metabolic disorder through epididymosome-sperm interaction.BMC medicine · 2023Article
- Understanding nucleic acid sensing and its therapeutic applications.Experimental & molecular medicine · 2023Review
- Role of autophagy and transcriptome regulation in acute brain injury.Experimental neurology · 2022Review
- How RNases Shape Mitochondrial Transcriptomes.International journal of molecular sciences · 2022Review
- Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.The Journal of allergy and clinical immunology · 2022Review
17 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital cytomegalovirus brain infection without symptoms at birth can cause a static encephalopathy with characteristic patterns of brain abnormalities. Here we show that loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to cystic leukoencephalopathy, an autosomal recessive disorder with an indistinguishable clinical and neuroradiological phenotype. Congenital cytomegalovirus infection and RNASET2 deficiency may both interfere with brain development and myelination through angiogenesis or RNA metabolism.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.