Human Molecular Genetics, Journal Year: 2024, Volume and Issue: unknown
Published: Dec. 16, 2024
Abstract Type I interferonopathies are severe monogenic diseases caused by mutations that result in chronically upregulated production of type interferon. They present with a broad variety symptoms, the mechanisms which being extensively studied. Mouse models an important resource for this purpose, and context, we review several key molecular phenotypic findings advancing our understanding respective diseases. We focus on genotypes related to nucleic acid metabolism, sensing cytosolic receptors downstream signalling.
Language: Английский