Lafora disease offers a unique window into neuronal glycogen metabolism

Matthew S. Gentry, Joan J. Guinovart, Berge A. Minassian, Peter Roach, Jose M. Serratosa

Research output: Contribution to journalReview article

18 Citations (Scopus)

Abstract

Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase.

Original languageEnglish (US)
Pages (from-to)7117-7125
Number of pages9
JournalJournal of Biological Chemistry
Volume293
Issue number19
DOIs
StatePublished - Jan 1 2018

Fingerprint

Lafora Disease
Glycogen
Metabolism
Glycogen Phosphorylase
Glycogen Synthase
Gene encoding
Ubiquitin-Protein Ligases
Phosphoric Monoester Hydrolases
Starch
Neurons
Epilepsy
Phosphates
Tissue
Mutation

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Gentry, M. S., Guinovart, J. J., Minassian, B. A., Roach, P., & Serratosa, J. M. (2018). Lafora disease offers a unique window into neuronal glycogen metabolism. Journal of Biological Chemistry, 293(19), 7117-7125. https://doi.org/10.1074/jbc.R117.803064

Lafora disease offers a unique window into neuronal glycogen metabolism. / Gentry, Matthew S.; Guinovart, Joan J.; Minassian, Berge A.; Roach, Peter; Serratosa, Jose M.

In: Journal of Biological Chemistry, Vol. 293, No. 19, 01.01.2018, p. 7117-7125.

Research output: Contribution to journalReview article

Gentry, MS, Guinovart, JJ, Minassian, BA, Roach, P & Serratosa, JM 2018, 'Lafora disease offers a unique window into neuronal glycogen metabolism', Journal of Biological Chemistry, vol. 293, no. 19, pp. 7117-7125. https://doi.org/10.1074/jbc.R117.803064
Gentry, Matthew S. ; Guinovart, Joan J. ; Minassian, Berge A. ; Roach, Peter ; Serratosa, Jose M. / Lafora disease offers a unique window into neuronal glycogen metabolism. In: Journal of Biological Chemistry. 2018 ; Vol. 293, No. 19. pp. 7117-7125.
@article{971cebd8a6e1425998d4956a8db53cb5,
title = "Lafora disease offers a unique window into neuronal glycogen metabolism",
abstract = "Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase.",
author = "Gentry, {Matthew S.} and Guinovart, {Joan J.} and Minassian, {Berge A.} and Peter Roach and Serratosa, {Jose M.}",
year = "2018",
month = "1",
day = "1",
doi = "10.1074/jbc.R117.803064",
language = "English (US)",
volume = "293",
pages = "7117--7125",
journal = "Journal of Biological Chemistry",
issn = "0021-9258",
publisher = "American Society for Biochemistry and Molecular Biology Inc.",
number = "19",

}

TY - JOUR

T1 - Lafora disease offers a unique window into neuronal glycogen metabolism

AU - Gentry, Matthew S.

AU - Guinovart, Joan J.

AU - Minassian, Berge A.

AU - Roach, Peter

AU - Serratosa, Jose M.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase.

AB - Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD develop cytoplasmic, aberrant glycogen inclusions in nearly all tissues that more closely resemble plant starch than human glycogen. This Minireview discusses the unique window into glycogen metabolism that LD research offers. It also highlights recent discoveries, including that glycogen contains covalently bound phosphate and that neurons synthesize glycogen and express both glycogen synthase and glycogen phosphorylase.

UR - http://www.scopus.com/inward/record.url?scp=85046972198&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85046972198&partnerID=8YFLogxK

U2 - 10.1074/jbc.R117.803064

DO - 10.1074/jbc.R117.803064

M3 - Review article

C2 - 29483193

AN - SCOPUS:85046972198

VL - 293

SP - 7117

EP - 7125

JO - Journal of Biological Chemistry

JF - Journal of Biological Chemistry

SN - 0021-9258

IS - 19

ER -