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 language | English (US) |
|---|---|
| Pages (from-to) | 7117-7125 |
| Number of pages | 9 |
| Journal | Journal of Biological Chemistry |
| Volume | 293 |
| Issue number | 19 |
| DOIs | |
| State | Published - Jan 1 2018 |
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ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Cell Biology
Cite this
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 journal › Review article
}
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
VL - 293
SP - 7117
EP - 7125
JO - Journal of Biological Chemistry
JF - Journal of Biological Chemistry
SN - 0021-9258
IS - 19
ER -