Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

(2010) Carmen Aguado et al.   HUMAN MOLECULAR GENETICS

Impaired Glucose Tolerance and Predisposition to the Fasted State in Liver Glycogen Synthase Knock-out Mice

(2010) Jose M. Irimia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glycogen: an overview of possible regulatory roles of the proteins associated with the granuleThis paper is one of a selection of papers published in this Special Issue, entitled 14th International Biochemistry of Exercise Conference – Muscles as Molecular and Metabolic Machines, and has undergone the Journal’s usual peer review process.

(2009) Terry E. Graham   Applied Physiology Nutrition and Metabolism

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

(2009) Nivetha Ramachandran et al.   EPILEPSIA

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

(2009) Shweta Singh et al.   HUMAN MUTATION

AMP-activated Protein Kinase Phosphorylates R5/PTG, the Glycogen Targeting Subunit of the R5/PTG-Protein Phosphatase 1 Holoenzyme, and Accelerates Its Down-regulation by the Laforin-Malin Complex

(2009) Santiago Vernia et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lafora disease: insights into neurodegeneration from plant metabolism

(2009) Matthew S. Gentry et al.   TRENDS IN BIOCHEMICAL SCIENCES

The malin–laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin–proteasome system

(2008) Punitee Garyali et al.   HUMAN MOLECULAR GENETICS

Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

(2008) Vincent S. Tagliabracci et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Prevalent Variant in PPP1R3A Impairs Glycogen Synthesis and Reduces Muscle Glycogen Content in Humans and Mice

(2008) David B Savage et al.   PLOS MEDICINE