Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up.

Authors opinions are their own and do not represent their institutions.

The papers discussed include:

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Wilson et al

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.

Ng et al

Rft1 catalyzes lipid-linked oligosaccharide translocation across the ER membrane.

Chen et al

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Hirata et al

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

Morales-Romero et al

N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.

Garapati et al

In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.

Shirakura et al

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.

Budhraja et al

D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).

Starosta et al

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.

Baerenfaenger et al

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.

Radenkovic et al

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

Lam et al