Glycogen Storage Diseases and Myoclonus
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Latest in Glycogen Storage Diseases and Myoclonus
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A homozygous PFKM variant previously seen only in dogs causes glycogen storage disease type VII in an Italian woman, impairing muscle metabolism and causing clinical symptoms.
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PKA-dependent phosphorylation induces stress granule maturation into solid-like states during prolonged starvation in yeast.
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Renal glycosuria activates a coordinated mannose and glutamine metabolic program that sustains glucose homeostasis, even with significant urinary glucose loss in mice.
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Rare protein-truncating variants in FNIP1 are linked to a 60% reduction in cardiometabolic disease risk in over one million humans.
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