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May 11, 2018

Volume 293Issue 19p7087-7487
Open Access
On The Cover: Patients with Lafora disease develop normally until early adolescence, when seizures begin, after which neurological decline and dementia set in rapidly until the patients succumb to the disease. Lafora disease is an autosomal recessive, nonclassical glycogen storage disease (GSD) caused by mutations in the EPM2A or EPM2B/NHLRC1 gene, which encodes the glycogen phosphatase laforin and the E3 ubiquitin ligase malin, respectively. Glycogen is a soluble carbohydrate storage molecule composed of branched chains of glucose and low levels of phosphate (yellow circles). Mutations in EPM2A or EPM2B result in the accumulation of glycogen that has increased phosphate, longer glucose chains, and reduced branching. This abnormal, less soluble glycogen aggregates to form the Lafora bodies that cause Lafora disease. Figure credit: M. Kathryn Brewer. For details, see the article by Gentry et al., pages 7117–7125....
On The Cover: Patients with Lafora disease develop normally until early adolescence, when seizures begin, after which neurological decline and dementia set in rapidly until the patients succumb to the disease. Lafora disease is an autosomal recessive, nonclassical glycogen storage disease (GSD) caused by mutations in the EPM2A or EPM2B/NHLRC1 gene, which encodes the glycogen phosphatase laforin and the E3 ubiquitin ligase malin, respectively. Glycogen is a soluble carbohydrate storage molecule composed of branched chains of glucose and low levels of phosphate (yellow circles). Mutations in EPM2A or EPM2B result in the accumulation of glycogen that has increased phosphate, longer glucose chains, and reduced branching. This abnormal, less soluble glycogen aggregates to form the Lafora bodies that cause Lafora disease. Figure credit: M. Kathryn Brewer. For details, see the article by Gentry et al., pages 7117–7125.

Editors' Picks Highlights

Editors' Picks

Thematic Minireviews

Cell Biology

DNA and Chromosomes

Enzymology

Gene Regulation

Glycobiology and Extracellular Matrices

Immunology

Membrane Biology

Metabolism

Microbiology

Molecular Bases of Disease

Molecular Biophysics

Neurobiology

Protein Structure and Folding

Additions and Corrections

Withdrawals/Retractions

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