Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy.
Animals
CD8-Positive T-Lymphocytes
/ metabolism
Cognitive Dysfunction
/ genetics
Disease Models, Animal
Endoribonucleases
/ genetics
Female
Flow Cytometry
Genotype
Humans
Immunohistochemistry
Leukoencephalopathies
/ genetics
Magnetic Resonance Imaging
Male
Memory T Cells
/ metabolism
Mice
Mice, Knockout
Neuroglia
/ metabolism
Real-Time Polymerase Chain Reaction
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
11 11 2021
11 11 2021
Historique:
received:
24
05
2020
accepted:
14
10
2021
entrez:
12
11
2021
pubmed:
13
11
2021
medline:
25
12
2021
Statut:
epublish
Résumé
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 hindered by the lack of mouse models recapitulating the neuroinflammatory encephalopathy found in patients. In this study, we generated Rnaset2
Identifiants
pubmed: 34764281
doi: 10.1038/s41467-021-26880-x
pii: 10.1038/s41467-021-26880-x
pmc: PMC8586222
doi:
Substances chimiques
Endoribonucleases
EC 3.1.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
6530Informations de copyright
© 2021. The Author(s).
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