| Literature DB >> 31787497 |
Benjamin L Farah1, Paul M Yen2, Dwight D Koeberl3.
Abstract
The glycogen storage diseases are a group of inherited metabolic disorders that are characterized by specific enzymatic defects involving the synthesis or degradation of glycogen. Each disorder presents with a set of symptoms that are due to the underlying enzyme deficiency and the particular tissues that are affected. Autophagy is a process by which cells degrade and recycle unneeded or damaged intracellular components such as lipids, glycogen, and damaged mitochondria. Recent studies showed that several of the glycogen storage disorders have abnormal autophagy which can disturb normal cellular metabolism and/or mitochondrial function. Here, we provide a clinical overview of the glycogen storage disorders, a brief description of autophagy, and the known links between specific glycogen storage disorders and autophagy.Entities:
Keywords: Autophagy; Cori disease; Glycogen Storage Disease (GSD); Glycogenosis; Lafora disease; Metabolism; Pompe disease; Signaling; von Gierke disease
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Year: 2019 PMID: 31787497 PMCID: PMC7836271 DOI: 10.1016/j.ymgme.2019.11.005
Source DB: PubMed Journal: Mol Genet Metab ISSN: 1096-7192 Impact factor: 4.797