Ubiquitylation is an essential post-translational modification that regulates intracellular
signalling networks by triggering proteasomal substrate degradation, changing the activity of …

Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily
through antigen-independent hyperactivation of immune pathways. First recognized just …

Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic
dermatosis with lipodystrophy and elevated temperature/proteasome-associated …

Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

The ubiquitin–proteasome system (UPS) is the major intracellular and non-lysosomal
protein degradation system. Thanks to its unique capacity of eliminating old, damaged …

Premature termination codon (PTC)-bearing transcripts are often degraded by nonsense-
mediated decay (NMD) resulting in loss-of-function (LoF) alleles. However, not all PTCs …

A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and
translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase …

Proteasome dysfunction can lead to autoinflammatory disease associated with elevated type
I interferon (IFN-αβ) and NF-κB signaling; however, the innate immune pathway driving this …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …

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 …