Search results for "Laforin"

showing 5 items of 5 documents

Ubiquitin conjugating enzyme E2-N and sequestosome-1 (p62) are components of the ubiquitination process mediated by the malin-laforin E3-ubiquitin li…

2015

11 páginas, 9 figuras.

Ubiquitin-Protein LigasesUbiquitin-conjugating enzymeBiochemistryLafora diseaseSequestosome 1UbiquitinE2-conjugaseLaforinPhagosomesSequestosome-1 ProteinmedicineAutophagyLC3HumanseducationE3-ubiquitin ligaseAdaptor Proteins Signal Transducingchemistry.chemical_classificationDNA ligaseeducation.field_of_studybiologyUbiquitinationAutophagosomesCell Biologymedicine.diseaseProtein Tyrosine Phosphatases Non-ReceptorMalinUbiquitin ligaseCell biologyp62 (SQSTM1)UBE2NHEK293 CellschemistryBiochemistryGene Knockdown TechniquesUbiquitin-Conjugating Enzymesbiology.proteinCarrier ProteinsLaforinUbiquitin-Conjugating Enzyme E2 NProtein Binding
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Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.

2020

Postprint 36 páginas, 7 figuras

0301 basic medicineArrestinsAmino Acid Transport System X-AGPhosphataseProgressive myoclonus epilepsyBiologyEndocytosisLafora diseaseArticle03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineUbiquitinmedicineAnimalsNedd4.2Lafora diseaseGlutamate receptorUbiquitinationTransportermedicine.diseaseProtein Tyrosine Phosphatases Non-ReceptorEndocytosisCell biologyGLT-1030104 developmental biologyNeurologyLafora Diseasebiology.proteinGlutamateLaforin030217 neurology & neurosurgeryGlia
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Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy

2015

12 páginas, 4 figuras, 1 tabla

Ubiquitin-Protein LigasesFree radicalsBiologymedicine.disease_causeBiochemistryAntioxidantsLafora diseasechemistry.chemical_compoundLaforinPhysiology (medical)medicineHumansLafora diseaseProteostasis DeficienciesGlycogenAutophagyProtein Tyrosine Phosphatases Non-ReceptorMalinmedicine.diseaseOxidative StressProteostasisLafora DiseaseBiochemistrychemistryProteasomeOxidative stressMutationProteostasisUnfolded protein responseCarrier ProteinsLaforinGlycogenOxidative stressFree Radical Biology and Medicine
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Increased oxidative stress and impaired antioxidant response in Lafora disease.

2014

15 páginas, 10 figuras

ProteomicsGenetically modified mouseAntioxidantmedicine.medical_treatmentNeuroscience (miscellaneous)Proteomic analysisMice TransgenicBiologymedicine.disease_causeBiochemistryAntioxidantsLafora diseaseMiceCellular and Molecular NeuroscienceLaforinPhysiology (medical)AutophagymedicineAnimalsHumansLafora diseaseMice Knockoutchemistry.chemical_classificationReactive oxygen speciesAutophagymedicine.diseaseMalinCell biologyNeurologychemistryBiochemistryOxidative stressMutationAntioxidant enzymesReactive Oxygen SpeciesLaforinOxidative stressIntracellularFree radical biologymedicine
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Assessing the biological activity of the glucan phosphatase laforin

2016

Glucan phosphatases are a recently discovered family of enzymes that dephosphorylate either starch or glycogen and are essential for proper starch metabolism in plants and glycogen metabolism in humans. Mutations in the gene encoding the only human glucan phosphatase, laforin, result in the fatal, neurodegenerative, epilepsy known as Lafora disease. Here, we describe phosphatase assays to assess both generic laforin phosphatase activity and laforin's unique glycogen phosphatase activity.

0301 basic medicinePhosphataseLafora diseaseArticleSubstrate SpecificityNitrophenols03 medical and health scienceschemistry.chemical_compound0302 clinical medicineOrganophosphorus CompoundsDual-specificity phosphatasemedicineHumansGlucanEnzyme Assayschemistry.chemical_classificationGlycogenbiologyfood and beveragesBiological activitymedicine.diseaseFluoresceinsProtein Tyrosine Phosphatases Non-Receptor030104 developmental biologyEnzymechemistryBiochemistryLafora Diseasebiology.proteinLaforin030217 neurology & neurosurgeryGlycogen
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