Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in
protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most …

Evolutionary cell biology explores the origins, principles, and core functions of cellular
features and regulatory networks through the lens of evolution. This emerging field relies …

While the identification and diagnosis of congenital disorders of glycosylation (CDG) have
rapidly progressed, the available treatment options are still quite limited. Mostly, we are only …

Mutations in glycosylation pathways, such as N-linked glycosylation, O-linked glycosylation,
and GPI anchor synthesis, lead to Congenital Disorders of Glycosylation (CDG). CDG …

Adaptive evolution navigates a balance between chance and determinism. The stochastic
processes of mutation and drift generate phenotypic variation; however, once mutations …

Core components of the N-glycosylation pathway are known, but the metabolic and post-
translational mechanisms regulating this pathway in normal and disease states remain …

PMM2-CDG, a disease caused by mutations in phosphomannomutase-2, is the most
common congenital disorder of glycosylation. Yet, it still lacks a cure. Targeting …

Mono‐allelic DHDDS variants are associated with seizures, intellectual disability, and
movement disorders. The age of onset and progression rates of symptoms vary greatly …

Loss of function mutations in the X-linked PIGA gene lead to PIGA-CDG, an ultra-rare
congenital disorder of glycosylation (CDG), typically presenting with seizures, hypotonia …

Despite recent developments and a large amount of data obtained with massive genetic
sequencing, the phenomenon of phenotypic variation remains poorly understood. One of the …