The ubiquitin proteasome system maintains protein homeostasis by regulating the
breakdown of misfolded proteins, thereby preventing misfolded protein aggregates. The …

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 …

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

The ubiquitin–proteasome system (UPS) is involved in multiple cellular functions including
the regulation of protein homeostasis, major histocompatibility (MHC) class I antigen …

The ubiquitin proteasome system (UPS) is a proteolytic machinery for the degradation of
protein substrates that are post-translationally conjugated with ubiquitin polymers through …

Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …

Over thirty years have passed since the first description of ubiquitin-positive structures in the
brain of patients suffering from Alzheimer's disease. Meanwhile, the intracellular …

Homozygous duplications contribute to genetic disease by altering gene dosage or
disrupting gene regulation and can be more deleterious to organismal biology than …

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

The molecular cause of the majority of rare autosomal recessive disorders remains
unknown. Consanguinity due to extensive homozygosity unravels many recessive …