PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
about
Genetics of Lafora progressive myoclonic epilepsy: current perspectivesEarly-onset Lafora body diseaseLoss of GABAergic cortical neurons underlies the neuropathology of Lafora diseaseStructural mechanism of laforin function in glycogen dephosphorylation and lafora disease.Protein degradation and quality control in cells from laforin and malin knockout mice.Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii.Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora diseaseMuscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice.Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.Loss of protein targeting to glycogen sensitizes human hepatocellular carcinoma cells towards glucose deprivation mediated oxidative stress and cell deathDeleterious effects of neuronal accumulation of glycogen in flies and miceNeuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora diseaseGlycogen and its metabolism: some new developments and old themes.Inhibiting glycogen synthesis prevents Lafora disease in a mouse model.Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease.A bioassay for Lafora disease and laforin glucan phosphatase activity.Everolimus does not prevent Lafora body formation in murine Lafora disease.Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?Genetics of epilepsy and relevance to current practice.Changing shapes of glycogen-autophagy nexus in neurons: perspective from a rare epilepsy.Glycogen phosphorylation and Lafora disease.Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.Update on pharmacological treatment of Progressive Myoclonus Epilepsies.Lafora disease in miniature Wirehaired Dachshunds.Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA).Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.Phosphorylation prevents polyglucosan transport in Lafora disease.Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease.Myoclonic epilepsy of LaforaEfficacy and tolerability of perampanel in ten patients with Lafora disease.Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease.Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease.PTG protein depletion rescues malin-deficient Lafora disease in mouse.Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.SGK1 (glucose transport), dishevelled2 (wnt signaling), LC3/p62 (autophagy) and p53 (apoptosis) proteins are unaltered in Lafora disease.Extraneurological sparing in long-lived typical Lafora disease.Guaiacol as a drug candidate for treating adult polyglucosan body disease
P2860
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P2860
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@ast
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@en
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@nl
type
label
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@ast
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@en
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@nl
prefLabel
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@ast
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@en
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@nl
P2093
P2860
P3181
P1433
P1476
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease
@en
P2093
Anna A DePaoli-Roach
Berge A Minassian
Cameron A Ackerley
Erica Tiberia
Julie Turnbull
Mark Piliguian
Nela Pencea
Peixiang Wang
Peter J Roach
Xiaochu Zhao
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1002037
P407
P577
2011-04-28T00:00:00Z