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Full-Text Articles in Medicine and Health Sciences
Untargeted Metabolomic Identification Of Diagnostic Biomarkers In Ectopic Pregnancy, Onur Turkoglu
Untargeted Metabolomic Identification Of Diagnostic Biomarkers In Ectopic Pregnancy, Onur Turkoglu
Conference Presentation Abstracts
No abstract provided.
Pre-Clinical Advancements In Biomarkers, Tools, And Therapeutics For A Metabolic Neurodegenerative Disease, Zoë Simmons
Pre-Clinical Advancements In Biomarkers, Tools, And Therapeutics For A Metabolic Neurodegenerative Disease, Zoë Simmons
Theses and Dissertations--Molecular and Cellular Biochemistry
Glycogen is the storage form of glucose and a highly important substrate for cellular metabolism. Characterization of the enzymes and mechanisms of glycogen metabolism began over 70 years ago and over the last 20 years, a previously unknown protein called laforin has emerged as an important contributor to glycogen metabolism homeostasis. Multiple labs demonstrated that laforin is a glycogen phosphatase and mutations in the gene encoding laforin cause the formation of aberrant glycogen-like aggregates called Lafora bodies (LBs). LBs are cytoplasmic, water-insoluble aggregates that drive neurodegeneration and early death in Lafora disease (LD) patients. The direct relationship between mutated laforin, …