Exome sequencing (ES) and genome sequencing (GS) have radically transformed the
diagnostic approach to undiagnosed rare/ultrarare Mendelian diseases. Next-generation …

Neurodevelopmental disorders (NDDs) are associated with a wide range of clinical features,
affecting multiple pathways involved in brain development and function. Recent advances 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 …

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 …

DPAGT1-CDG is a Congenital Disorder of Glycosylation (CDG) that lacks effective therapies.
It is caused by mutations in the gene DPAGT1 which encodes the first enzyme in N-linked …

The cytosolic peptide: N-glycanase (PNGase; NGLY1 in humans) is a deglycosylating
enzyme that is widely conserved in eukaryotes. This enzyme is involved in the degradation …

Mutations in the phosphatidylinositol glycan biosynthesis class A (PIGA) gene cause a rare,
X-linked recessive congenital disorder of glycosylation. Phosphatidylinositol glycan …

We are happy to present the Community series in Recent advances in Drosophila cellular
and humoral innate immunity: Volume II, exploring the advances made in the field since our …

The cytosolic peptide: N-glycanase (PNGase; NGLY1 in human and PNG1 in budding yeast)
is a deglycosylating enzyme widely conserved in eukaryotes. Initially, functional importance …

NGLY1 Deficiency is an autosomal recessive congenital disorder that has been identified in
less than 100 individuals. Most individuals with NGLY1 Deficiency display hyperkinetic …