Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin
about
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolismLaforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cellsGenetics of Lafora progressive myoclonic epilepsy: current perspectivesLoss of GABAergic cortical neurons underlies the neuropathology of Lafora diseasePTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora diseaseDeficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistanceStructural mechanism of laforin function in glycogen dephosphorylation and lafora disease.Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.Protein degradation and quality control in cells from laforin and malin knockout mice.A PTG variant contributes to a milder phenotype in Lafora diseaseLafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional levelLaforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activityGlycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.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.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.Deciphering the role of malin in the lafora progressive myoclonus epilepsyLate-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora diseaseLaforin prevents stress-induced polyglucosan body formation and Lafora disease progression in neurons.Glycogen and its metabolism: some new developments and old themes.Activation of serum/glucocorticoid-induced kinase 1 (SGK1) underlies increased glycogen levels, mTOR activation, and autophagy defects in Lafora disease.Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylasePhenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?Neuromuscular disorders of glycogen metabolism.Broad spectrum of hepatocyte inclusions in humans, animals, and experimental models.Myocardial glycogen dynamics: new perspectives on disease mechanisms.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.Novel method for detection of glycogen in cells.Ubiquitin Ligases and Posttranslational Regulation of Energy in the Heart: The Hand that Feeds.Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazolePharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity.Glycogen hyperphosphorylation underlies lafora body formation.Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
P2860
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P2860
Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Genetic depletion of the malin ...... umulation of insoluble laforin
@ast
Genetic depletion of the malin ...... umulation of insoluble laforin
@en
Genetic depletion of the malin ...... umulation of insoluble laforin
@nl
type
label
Genetic depletion of the malin ...... umulation of insoluble laforin
@ast
Genetic depletion of the malin ...... umulation of insoluble laforin
@en
Genetic depletion of the malin ...... umulation of insoluble laforin
@nl
prefLabel
Genetic depletion of the malin ...... umulation of insoluble laforin
@ast
Genetic depletion of the malin ...... umulation of insoluble laforin
@en
Genetic depletion of the malin ...... umulation of insoluble laforin
@nl
P2093
P2860
P356
P1476
Genetic depletion of the malin ...... umulation of insoluble laforin
@en
P2093
Anna A DePaoli-Roach
Catalina M Meyer
Dyann M Segvich
Jose M Irimia
Peter J Roach
Vincent S Tagliabracci
P2860
P304
25372-25381
P356
10.1074/JBC.M110.148668
P407
P577
2010-06-10T00:00:00Z