Add to ORKGLafora 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
Glycogen is the storage form of glucose and a highly important substrate for cellular metabolism. Ch...
12 p.-7 fig. Nitschke, Felix et al.Lafora disease (LD) is a fatal progressive epilepsy essentially ...
Lafora disease (LD) is an intractable, neurodegenerative epilepsy caused by loss-of-function mutatio...
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as sev...
Glycogen is the major mammalian glucose storage cache and is critical for energy homeostasis. Glycog...
Glycogen is the sole carbohydrate storage molecule found in mammalian cells and plays an important r...
Lafora Disease (LD) is a fatal teenage-onset progressive myoclonus epilepsy. It is characterized by ...
SummaryLaforin or malin deficiency causes Lafora disease, characterized by altered glycogen metaboli...
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with ad...
The hallmark of Lafora disease, a fatal neurodegenerative disorder, is the accumulation of intracell...
Lafora disease (LD) is an adolescent-onset autosomal recessive progressive myoclonus epilepsy. The m...
Covalent phosphorylation of glycogen, first described 35 years ago, was put on firm ground through t...
Indiana University-Purdue University Indianapolis (IUPUI)Glycogen is a highly branched polymer of gl...
Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessib...
In brain, glycogen metabolism is predominantly restricted to astrocytes but it also indirectly suppo...
Glycogen is the storage form of glucose and a highly important substrate for cellular metabolism. Ch...
12 p.-7 fig. Nitschke, Felix et al.Lafora disease (LD) is a fatal progressive epilepsy essentially ...
Lafora disease (LD) is an intractable, neurodegenerative epilepsy caused by loss-of-function mutatio...
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as sev...
Glycogen is the major mammalian glucose storage cache and is critical for energy homeostasis. Glycog...
Glycogen is the sole carbohydrate storage molecule found in mammalian cells and plays an important r...
Lafora Disease (LD) is a fatal teenage-onset progressive myoclonus epilepsy. It is characterized by ...
SummaryLaforin or malin deficiency causes Lafora disease, characterized by altered glycogen metaboli...
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with ad...
The hallmark of Lafora disease, a fatal neurodegenerative disorder, is the accumulation of intracell...
Lafora disease (LD) is an adolescent-onset autosomal recessive progressive myoclonus epilepsy. The m...
Covalent phosphorylation of glycogen, first described 35 years ago, was put on firm ground through t...
Indiana University-Purdue University Indianapolis (IUPUI)Glycogen is a highly branched polymer of gl...
Glycogen is a carbohydrate molecule that is traditionally viewed as a convenient and easily accessib...
In brain, glycogen metabolism is predominantly restricted to astrocytes but it also indirectly suppo...
Glycogen is the storage form of glucose and a highly important substrate for cellular metabolism. Ch...
12 p.-7 fig. Nitschke, Felix et al.Lafora disease (LD) is a fatal progressive epilepsy essentially ...
Lafora disease (LD) is an intractable, neurodegenerative epilepsy caused by loss-of-function mutatio...