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Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.

Publication ,  Journal Article
Farah, BL; Yen, PM; Koeberl, DD
Published in: Mol Genet Metab
January 2020

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.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

January 2020

Volume

129

Issue

1

Start / End Page

3 / 12

Location

United States

Related Subject Headings

  • Muscle, Skeletal
  • Humans
  • Glycogenolysis
  • Glycogen Storage Disease Type II
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disease
  • Glycogen
  • Genetics & Heredity
  • Autophagy
  • Animals
 

Citation

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Farah, B. L., Yen, P. M., & Koeberl, D. D. (2020). Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments. Mol Genet Metab, 129(1), 3–12. https://doi.org/10.1016/j.ymgme.2019.11.005
Farah, Benjamin L., Paul M. Yen, and Dwight D. Koeberl. “Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.Mol Genet Metab 129, no. 1 (January 2020): 3–12. https://doi.org/10.1016/j.ymgme.2019.11.005.
Farah, Benjamin L., et al. “Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.Mol Genet Metab, vol. 129, no. 1, Jan. 2020, pp. 3–12. Pubmed, doi:10.1016/j.ymgme.2019.11.005.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

January 2020

Volume

129

Issue

1

Start / End Page

3 / 12

Location

United States

Related Subject Headings

  • Muscle, Skeletal
  • Humans
  • Glycogenolysis
  • Glycogen Storage Disease Type II
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disease
  • Glycogen
  • Genetics & Heredity
  • Autophagy
  • Animals