Specificity within the ubiquitin–proteasome system is primarily achieved through E3
ubiquitin ligases, but for many E3s their substrates—and in particular the molecular features …

Hereditary motor neuropathies are clinically and genetically diverse disorders characterized
by length-dependent axonal degeneration of lower motor neurons. Although currently as …

Macrophages are highly plastic cells that differentially regulate multiple pathological
conditions, including cancer and autoimmune diseases. In response to various stimuli …

Abstract SKP1-CUL1-F-box protein (SCF) ubiquitin ligases are versatile protein complexes
that mediate the ubiquitination of protein substrates. The direct substrate recognition relies …

Myelination is essential for neuronal function and health. In peripheral nerves,> 100
causative mutations have been identified that cause Charcot-Marie-Tooth disease, a …

In rare diseases such as HMN, the recent development of genetic sequencing and data
interpretation methods has enabled a broader diagnostic approach, whereas treatment …

The ubiquitin ligase SCFFBXO38 controls centromeric chromatin by promoting the
degradation of the ZXDB protein. To determine the importance of this pathway during …

Alterations in the gene encoding the E3 ubiquitin ligase substrate receptor FBXO38 have
been associated with several diseases, including early-onset motor neuronopathy …

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and
genetically heterogeneous, and that the genetic component in sporadic cases might be …

Congenital deafness is prevalent among modern dog breeds, including Australian Stumpy
Tail Cattle Dogs (ASCD). However, in ASCD, no causative gene has been identified so far …