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Beneficial Effect of Fingolimod in a Lafora Disease Mouse Model by Preventing Reactive Astrogliosis-Derived Neuroinflammation and Brain Infiltration of T-lymphocytes. [PDF]
Mol NeurobiolRubio T, Campos-Rodríguez Á, Sanz P.
europepmc +1 more source
Glycogen phosphorylation and Lafora disease [PDF]
Molecular Aspects of Medicine, 2015 Covalent phosphorylation of glycogen, first described 35 years ago, was put on firm ground through the work of the Whelan laboratory in the 1990s. But glycogen phosphorylation lay fallow until interest was rekindled in the mid 2000s by the finding that ...
Peter J Roach
exaly +5 more sources
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
EMBO Molecular Medicine, 2017 12 p.-7 fig. Nitschke, Felix et al.Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss-of-function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin.
Felix Nitschke +2 more
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Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease [PDF]
Brain, 2021 The hallmark of Lafora disease, a fatal neurodegenerative disorder, is the accumulation of intracellular glycogen aggregates, called Lafora bodies. Until recently, it was widely believed that brain Lafora bodies were present exclusively in neurons and ...
Jordi Duran +2 more
exaly +2 more sources
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CNS Drugs, 2010
Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin.
Thomas S, Monaghan, Norman, Delanty
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Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin.
Thomas S, Monaghan, Norman, Delanty
+6 more sources
The myocardium in Lafora disease
Acta Neuropathologica, 1975Histological, histochemical and electron microscopic studies on the myocardium of 3 Japanese patients with Lafora disease were carried out.
S, Yokoi, Y, Aihara, S, Maeda
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Archives of Neurology, 1974
Ultrastructural studies of muscle from a patient with Lafora disease showed sheets of glycogen particles and fine granular-filamentous material between myofibrils. These structures were frequently intermingled and stained intensely with silver proteinate, a specific stain for polysaccharides.
D L, Coleman +3 more
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Ultrastructural studies of muscle from a patient with Lafora disease showed sheets of glycogen particles and fine granular-filamentous material between myofibrils. These structures were frequently intermingled and stained intensely with silver proteinate, a specific stain for polysaccharides.
D L, Coleman +3 more
openaire +2 more sources