The AAA+ ATPase valosin containing protein (VCP) is essential for cell and organ
homeostasis, especially in cells of the nervous system. As part of a large network, VCP …

bstract Introduction NGLY1-associated congenital disorder of deglycosylation (CDDG1:
OMIM# 615273) is a rare autosomal recessive disorder caused by a functional impairment of …

Intestinal barrier dysfunction leads to inflammation and associated metabolic changes.
However, the relative impact of gut bacteria versus non-bacterial insults on animal health in …

NGLY1, a cytoplasmic de-N-glycosylating enzyme is well conserved among eukaryotes.
This enzyme has attracted considerable attention after mutations on the NGLY1 gene were …

Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem
disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to …

Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic
pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and …

Anti-IgLON5 disease is a rare and likely underdiagnosed subtype of autoimmune
encephalitis. The disease displays a heterogeneous phenotype that includes sleep …

Endoplasmic reticulum‐associated protein degradation (ERAD) is a stringent quality control
mechanism through which misfolded, unassembled and some native proteins are targeted …

The conserved SKN-1A/Nrf1 transcription factor regulates the expression of proteasome
subunit genes and is essential for maintenance of adequate proteasome function in animal …

Rabies virus causes an estimated 59,000 annual fatalities worldwide and promising
therapeutic treatments are necessary to develop. In this study, affinity tag-purification mass …