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
