Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy.

doi:10.1038/s41467-021-26880-x

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy.

Nature communications - 11 Nov 2021

Kettwig Matthias, Ternka Katharina, Wendland Kristin, Krüger Dennis Manfred, Zampar Silvia, Schob Charlotte, Franz Jonas, Aich Abhishek, Winkler Anne, Sakib M Sadman, Kaurani Lalit, Epple Robert, Werner Hauke B, Hakroush Samy, Kitz Julia, Prinz Marco, Bartok Eva, Hartmann Gunther, Schröder Simone, Rehling Peter, Henneke Marco, Boretius Susann, Alia A, Wirths Oliver, Fischer Andre, Stadelmann Christine, Nessler Stefan, Gärtner Jutta

Abstract excerpt

Infantile-onset RNaseT2 deficient leukoencephalopathy is characterised by cystic brain lesions, multifocal white matter alterations, cerebral atrophy, and severe psychomotor impairment. The phenotype is similar to congenital cytomegalovirus brain infection and overlaps with type I interferonopathies, suggesting a role for innate immunity in its pathophysiology. To date, pathophysiological studies have been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CD8-Positive T-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognitive Dysfunction

Share to Endoribonucleases

Share to Flow Cytometry

Share to Leukoencephalopathies

Share to Magnetic Resonance Imaging

Share to Neuroglia

Share to Real-Time Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 34764281
DOI: 10.1038/s41467-021-26880-x
PMCID: PMC8586222

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy.PMID 34764281Read ↗

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.Semantic proximity Read ↗

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.Semantic proximity Read ↗

The failure of microglia to digest developmental apoptotic cells contributes to the pathology of RNASET2-deficient leukoencephalopathy.Semantic proximity Read ↗

Aicardi-Goutières syndrome associated mutation at ADAR1 gene locus activates innate immune response in mouse brainSemantic proximity Read ↗

Aicardi-Goutières syndrome-associated mutation at ADAR1 gene locus activates innate immune response in mouse brain.Semantic proximity Read ↗

Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.Semantic proximity Read ↗

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.Semantic proximity Read ↗

PNPT1 mutations may cause Aicardi-Goutières-Syndrome.Semantic proximity Read ↗

An Aicardi-Goutières Syndrome-Causative Point Mutation in Adar1 Gene Invokes Multiorgan Inflammation and Late-Onset Encephalopathy in Mice.Semantic proximity Read ↗

RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid-Mediated Autoinflammation.Semantic proximity Read ↗

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.Semantic proximity Read ↗

Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.