Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
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A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's diseaseInsights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cellsVoltage sensitive phosphatases: emerging kinship to protein tyrosine phosphatases from structure-function researchLaforin, a dual specificity phosphatase that dephosphorylates complex carbohydratesConservation of the glucan phosphatase laforin is linked to rates of molecular evolution and the glucan metabolism of the organismModulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy.A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforinCo-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease.Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activityMutations in NHLRC1 cause progressive myoclonus epilepsy.Advances in the genetics of progressive myoclonus epilepsy.Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsyDimerization of the glucan phosphatase laforin requires the participation of cysteine 329.Genetic identifiers of epilepsy.Molecular background of progressive myoclonus epilepsy.Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22Recent developments in the quest for myoclonic epilepsy genes.The laforin-malin complex negatively regulates glycogen synthesis by modulating cellular glucose uptake via glucose transporters.Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase.Malin regulates Wnt signaling pathway through degradation of dishevelled2Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii.The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease.Inhibitors of protein tyrosine phosphatases: next-generation drugs?Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.Neuronal survival in epilepsy: to die or not to die?Deleterious effects of neuronal accumulation of glycogen in flies and miceHyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.Advances in lafora progressive myoclonus epilepsy.Lafora disease, seizures and sugars.Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.Glycogen and its metabolism: some new developments and old themes.Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stressHyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease.Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.The autosomal recessively inherited progressive myoclonus epilepsies and their genes.Lafora disease: insights into neurodegeneration from plant metabolism.
P2860
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P2860
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
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name
Laforin, defective in the prog ...... associated with polyribosomes
@ast
Laforin, defective in the prog ...... associated with polyribosomes
@en
Laforin, defective in the prog ...... associated with polyribosomes
@en-gb
Laforin, defective in the prog ...... associated with polyribosomes
@nl
type
label
Laforin, defective in the prog ...... associated with polyribosomes
@ast
Laforin, defective in the prog ...... associated with polyribosomes
@en
Laforin, defective in the prog ...... associated with polyribosomes
@en-gb
Laforin, defective in the prog ...... associated with polyribosomes
@nl
prefLabel
Laforin, defective in the prog ...... associated with polyribosomes
@ast
Laforin, defective in the prog ...... associated with polyribosomes
@en
Laforin, defective in the prog ...... associated with polyribosomes
@en-gb
Laforin, defective in the prog ...... associated with polyribosomes
@nl
P2093
P2860
P1476
Laforin, defective in the prog ...... associated with polyribosomes
@en
P2093
A V Delgado-Escueta
K L Agarwala
K Yamakawa
T Hashikawa
P2860
P304
P356
10.1093/OXFORDJOURNALS.HMG.A018916
P407
P577
2000-09-22T00:00:00Z