Lafora disease offers a unique window into neuronal glycogen metabolism.

The Journal of Biological Chemistry
Matthew S GentryJose M Serratosa

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.

References

Jul 1, 1991·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·S F BerkovicF Andermann
Jan 1, 1980·FEBS Letters·J D Fontana
Jan 1, 1983·Journal of Neurochemistry·C J CumminsJ V Passonneau
Sep 1, 1995·Human Molecular Genetics·J M SerratosaR S Sparkes
Jun 1, 1996·Current Opinion in Structural Biology·K L Borden, P S Freemont
Aug 14, 1999·Epilepsia·J M Serratosa
Jun 1, 2000·International Journal of Biological Macromolecules·A BlennowB L Møller
Apr 13, 2002·Current Molecular Medicine·Peter J Roach
Dec 7, 2002·Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism·Nancy F Cruz, Gerald A Dienel
Sep 6, 2003·Nature Genetics·Elayne M ChanStephen W Scherer
Feb 1, 1965·Archives of Neurology·G A SCHWARZ, M YANOFF
Jun 3, 2005·Proceedings of the National Academy of Sciences of the United States of America·Matthew S GentryJack E Dixon
Oct 26, 2005·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Abuhuziefa AbubakrRosario Zappulla
Aug 12, 2006·The Journal of Biological Chemistry·Carolyn A WorbyJack E Dixon
Nov 23, 2006·Archives of Biochemistry and Biophysics·Wei WangPeter J Roach
Dec 26, 2006·International Journal of Biological Macromolecules·Sergey S KozlovVladimir P Yuryev
Jul 31, 2007·Glia·Angus M Brown, Bruce R Ransom
Nov 9, 2007·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Ditte LovattMaiken Nedergaard
Nov 22, 2007·Human Molecular Genetics·Maria Carmen Solaz-FusterSantiago Rodriguez de Córdoba
Nov 28, 2007·Proceedings of the National Academy of Sciences of the United States of America·Vincent S TagliabracciPeter J Roach
Dec 12, 2007·The Journal of Biological Chemistry·Carolyn A WorbyJack E Dixon
Oct 15, 2008·The Journal of Biological Chemistry·Vincent S TagliabracciPeter J Roach
Oct 13, 2009·Trends in Biochemical Sciences·Matthew S GentryCarolyn A Worby
Feb 13, 2010·Trends in Plant Science·Andreas Blennow, Søren B Engelsen
May 11, 2010·Human Molecular Genetics·Carmen AguadoDavid C Rubinsztein
Jun 12, 2010·The Journal of Biological Chemistry·Anna A DePaoli-RoachPeter J Roach
Nov 16, 2010·Annals of Neurology·Julie TurnbullBerge A Minassian
Mar 2, 2011·Cell Metabolism·Vincent S TagliabracciPeter J Roach
May 10, 2011·PLoS Genetics·Julie TurnbullBerge A Minassian

❮ Previous
Next ❯

Citations

Mar 9, 2018·The Journal of Biological Chemistry·Gerald M CarlsonRoger J Colbran
Feb 28, 2018·The Journal of Biological Chemistry·Clara PratsJane Shearer
Mar 25, 2018·The Journal of Biological Chemistry·Lasse K BakHelle S Waagepetersen
Sep 25, 2018·Journal of Neurogenetics·Jeffrey D Calhoun, Gemma L Carvill
Oct 31, 2018·Chemical Communications : Chem Comm·Federica Del GaudioMaria Chiara Monti
Oct 17, 2019·Advanced Materials·Quinn A BesfordFrank Caruso
Apr 29, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yujiao FuHongyu Long
Jul 29, 2020·Autophagy·Akanksha OnkarSubramaniam Ganesh
Jul 30, 2019·Cell Metabolism·M Kathryn BrewerMatthew S Gentry
Sep 17, 2019·Trends in Molecular Medicine·Zhengqiu ZhouMatthew S Gentry
Jun 2, 2020·Carbohydrate Polymers·M Kathryn BrewerMatthew S Gentry
Oct 7, 2018·Analytical Biochemistry·Savita SharmaCraig W Vander Kooi
Feb 20, 2021·Neuromuscular Disorders : NMD·Pascal LaforêtUNKNOWN ENMC 251st workshop study group
Apr 1, 2021·Neurochemical Research·Brigitte Pfeiffer-Guglielmi, Ralf-Peter Jansen
Mar 28, 2021·Journal of the Neurological Sciences·Antonella RivaUNKNOWN Italian League Against Epilepsy Genetic Commission
Apr 9, 2021·Clinical Biochemistry·Zoe R SimmonsMatthew S Gentry
May 1, 2021·Cells·Lorena KumarasingheGermana Meroni
May 5, 2021·Epilepsy & Behavior : E&B·Kia H MarkussenMatthew S Gentry
Apr 7, 2021·Brain : a Journal of Neurology·Jordi DuranJoan J Guinovart
Aug 18, 2021·Orphanet Journal of Rare Diseases·Federica PondrelliFrancesca Bisulli
Mar 7, 2020·Journal of Medicinal Chemistry·Buyun TangThomas D Hurley

❮ Previous
Next ❯

Related Concepts

Related Feeds

ASBMB Publications

The American Society for Biochemistry and Molecular Biology (ASBMB) includes the Journal of Biological Chemistry, Molecular & Cellular Proteomics, and the Journal of Lipid Research. Discover the latest research from ASBMB here.