Silvia & Rodrigo's IMD Research round-up

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

IMD Research Round-Up: Congenital Disorders of Glycosylation

Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria.   

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

Papers discussed include:
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
Forny et al

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
Head et al

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli et al

Prime editing for functional repair in patient-derived disease models
Schene et al

Mutation-specific reporter for optimization and enrichment of prime editing
Schene et al

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli et al

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.
Molema et al

IMD Research Round-Up: Methylmalonic Aciduria

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