The type I interferonopathies: 10 years on

YJ Crow, DB Stetson - Nature Reviews Immunology, 2022 - nature.com
As brutally demonstrated by the COVID-19 pandemic, an effective immune system is
essential for survival. Developed over evolutionary time, viral nucleic acid detection is a …

Type I interferonopathies in children: an overview

DM d'Angelo, P Di Filippo, L Breda, F Chiarelli - Frontiers in pediatrics, 2021 - frontiersin.org
Notable advances in gene sequencing methods in recent years have permitted enormous
progress in the phenotypic and genotypic characterization of autoinflammatory syndromes …

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

F Ebstein, S Küry, V Most, C Rosenfelt… - Science translational …, 2023 - science.org
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and
translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase …

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases

I Aksentijevich, O Schnappauf - Nature Reviews Rheumatology, 2021 - nature.com
Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

Out of control: the role of the ubiquitin proteasome system in skeletal muscle during inflammation

S Haberecht-Müller, E Krüger, J Fielitz - Biomolecules, 2021 - mdpi.com
The majority of critically ill intensive care unit (ICU) patients with severe sepsis develop ICU-
acquired weakness (ICUAW) characterized by loss of muscle mass, reduction in myofiber …

Role of proteasomes in inflammation

CC Goetzke, F Ebstein, T Kallinich - Journal of clinical medicine, 2021 - mdpi.com
The ubiquitin–proteasome system (UPS) is involved in multiple cellular functions including
the regulation of protein homeostasis, major histocompatibility (MHC) class I antigen …

The proteasome as a druggable target with multiple therapeutic potentialities: Cutting and non-cutting edges

GR Tundo, D Sbardella, AM Santoro, A Coletta… - Pharmacology & …, 2020 - Elsevier
Abstract Ubiquitin Proteasome System (UPS) is an adaptable and finely tuned system that
sustains proteostasis network under a large variety of physiopathological conditions. Its …

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies

B Lin, R Goldbach-Mansky - Journal of Allergy and Clinical Immunology, 2022 - Elsevier
A number of systemic autoinflammatory diseases arise from gain-of-function mutations in
genes encoding IL-1–activating inflammasomes or cytoplasmic nucleic acid sensors …

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

JJ Papendorf, F Ebstein, S Alehashemi… - Frontiers in …, 2023 - frontiersin.org
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers
typically cause recurring autoinflammation referred to as chronic atypical neutrophilic …

Monogenic autoinflammatory diseases: state of the art and future perspectives

G Di Donato, DM d'Angelo, L Breda… - International Journal of …, 2021 - mdpi.com
Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized
by a dysregulation of the innate immune system, in which sterile inflammation primarily …