Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …

N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of
misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum …

Ferroptosis is an oxidative form of nonapoptotic cell death whose transcriptional regulation
is poorly understood. Cap'n'collar (CNC) transcription factors including nuclear factor …

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 …

Biallelic mutations in the gene that encodes the enzyme N-glycanase 1 (NGLY1) cause a
rare disease with multi-symptomatic features including developmental delay, intellectual …

NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal
recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is …

NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by
mutations in the NGLY1 gene encoding N-glycanase 1 that removes N-linked glycans …

The concentration of intracellular and extracellular potassium is tightly regulated due to the
action of various ion transporters, channels, and pumps, which reside primarily in the kidney …

Abstract N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by
developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits …

Recent advances in genome sequencing have led to the identification of new ion and
metabolite transporters, many of which have not been characterized. Due to the variety of …