IMD Research round-up: Glycogen Storage Disorders

JIMD Podcasts

In this episode, Dr Joost Groen, a clinical biochemist at the University Medical Center Groningen, and Dr Matt Gentry, Professor & Chair of Biochemistry & Molecular Biology in the College of Medicine at University of Florida, join Rodrigo and Silvia to discuss new insights, AI, cancer metabolism and some of their favourite papers on Glycogen Storage Disorders. Authors opinions are their own and do not represent their institutions. GSD episode papers: Brain glycogen serves as a critical glucosamine cache required for protein glycosylation. Sun et al A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles. Groen et al Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders. Ullman et al Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin. Overduin et al Gross-Valle The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside. Gross-Valle et al Glycogen drives tumour initiation and progression in lung adenocarcinoma. Clarke HA et al Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis. Conroy et al In situ mass spectrometry imaging reveals heterogeneous glycogen stores in human normal and cancerous tissues. Young et al Glycogen accumulation modulates life span in a mouse model of amyotrophic lateral sclerosis. Brewer et al Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants. Rahman MS et al Neurological glycogen storage diseases and emerging therapeutics Colpaert et al