The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

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

BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically
heterogeneous group of mendelian disorders of cornification, typically involving the entire …

Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin,
scaling and hyperkeratosis, and often associated with erythroderma. These manifestations …

Nakajo-Nishimura syndrome (NNS) is a disorder that segregates in an autosomal recessive
fashion. Symptoms include periodic fever, skin rash, partial lipomuscular atrophy, and joint …

The proteasome processes proteins to facilitate immune recognition and host defense.
When inherently defective, it can lead to aberrant immunity resulting in a dysregulated …

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

The underground environment imposes unique demands on life that have led subterranean
species to evolve specialized traits, many of which evolved convergently. We studied …

Abstract Ubiquitin Proteasome System (UPS) is an adaptable and finely tuned system that
sustains proteostasis network under a large variety of physiopathological conditions. Its …

Dedicated assembly factors orchestrate the stepwise production of many molecular
machines, including the 28-subunit proteasome core particle (CP) that mediates protein …