Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The
disease usually manifests in previously healthy adolescents, and death commonly occurs …

Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to
mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype …

Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the
EPM2A or EPM2B gene. A hallmark of LD is the intracellular accumulation of insoluble …

Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized
neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora …

Lafora disease (LD) is one of the progressive and fatal forms of a neurodegenerative
disorder and is characterized by teenage-onset myoclonic seizures. Neuropathological …

The ubiquitin system impacts most cellular processes and is altered in numerous
neurodegenerative diseases. However, little is known about its role in neurodegenerative …

Laforin or malin deficiency causes Lafora disease, characterized by altered glycogen
metabolism and teenage-onset neurodegeneration with intractable and invariably fatal …

Lafora disease (LD) and adult polyglucosan body disease (APBD) are glycogen storage
diseases characterized by a pathogenic buildup of insoluble glycogen. Mechanisms causing …

Polyglucosan is an amylopectin-like polysaccharide associated with defective glycogen
metabolism and, unlike normal glycogen, it is to some extent resistant to α-amylase …

Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically.
The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein …