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

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …

Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers
typically cause recurring autoinflammation referred to as chronic atypical neutrophilic …

Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders
caused by excess activation of the innate immune system in an antigen-independent …

The balance between a protective and a destructive immune response can be precarious,
as exemplified by inborn errors in nucleotide metabolism. This class of inherited disorders …

The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein
homeostasis and to control signalling. Whole‐genome sequencing of patients with severe …

The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high
rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD …

Objective Proteasome‐associated autoinflammatory syndrome (PRAAS) is caused by
mutations affecting components of the proteasome and activation of the type I interferon …

Background Thyroid eye disease (TED) is the most common orbital pathology that occurs in
up to 50% of patients with Graves' disease. Herein, we aimed at discovering the possible …

Mutations in proteasome β-subunits or their chaperone and regulatory proteins are
associated with proteasome-associated autoinflammatory disorders (PRAAS). We studied …