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Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

https://doi.org/10.1073/pnas.0503285102
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1001/archneur.1965.00460260062008openalex-snapshot
Lafora's Disease
inferredcites →https://doi.org/10.1002/1531-8249(20010201)49:2<271::aid-ana52>3.0.co;2-dopenalex-snapshot
Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
inferredcites →https://doi.org/10.1002/humu.10306openalex-snapshot
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1006/abio.2000.4497openalex-snapshot
A Sensitive Assay for Phosphoinositide Phosphatases
inferredcites →https://doi.org/10.1006/jmbi.1999.3429openalex-snapshot
RING domains: master builders of molecular scaffolds?
inferredcites →https://doi.org/10.1007/bf02863929openalex-snapshot
Beitrag zur Histopathologie der myoklonischen Epilepsie
inferredcites →https://doi.org/10.1016/j.bbrc.2003.12.043openalex-snapshot
The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies
inferredcites →https://doi.org/10.1016/j.ceb.2004.02.005openalex-snapshot
The novel functions of ubiquitination in signaling
inferredcites →https://doi.org/10.1016/j.cub.2004.12.032openalex-snapshot
The Crohn's Disease Protein, NOD2, Requires RIP2 in Order to Induce Ubiquitinylation of a Novel Site on NEMO
inferredcites →https://doi.org/10.1016/s0021-9258(20)82050-xopenalex-snapshot
Components of ubiquitin-protein ligase system. Resolution, affinity purification, and role in protein breakdown.
inferredcites →https://doi.org/10.1016/s0092-8674(00)00057-xopenalex-snapshot
Structure of a c-Cbl–UbcH7 Complex
inferredcites →https://doi.org/10.1016/s0092-8674(00)80403-1openalex-snapshot
F-Box Proteins Are Receptors that Recruit Phosphorylated Substrates to the SCF Ubiquitin-Ligase Complex
inferredcites →https://doi.org/10.1016/s0092-8674(00)80404-3openalex-snapshot
A Complex of Cdc4p, Skp1p, and Cdc53p/Cullin Catalyzes Ubiquitination of the Phosphorylated CDK Inhibitor Sic1p
inferredcites →https://doi.org/10.1016/s0092-8674(03)00193-4openalex-snapshot
Pirh2, a p53-Induced Ubiquitin-Protein Ligase, Promotes p53 Degradation
inferredcites →https://doi.org/10.1016/s0955-0674(03)00010-3openalex-snapshot
Ubiquitin: not just for proteasomes anymore
inferredcites →https://doi.org/10.1016/s0960-9822(00)00386-9openalex-snapshot
G-protein-coupled receptors function as oligomers in vivo
inferredcites →https://doi.org/10.1016/s0960-9822(00)00462-0openalex-snapshot
Transcriptional regulation: Kamikaze activators
inferredcites →https://doi.org/10.1016/s0962-8924(00)01834-1openalex-snapshot
The lore of the RINGs: substrate recognition and catalysis by ubiquitin ligases
inferredcites →https://doi.org/10.1016/s0968-0004(98)01299-7openalex-snapshot
A novel repeat domain that is often associated with RING finger and B-box motifs
inferredcites →https://doi.org/10.1038/2470openalex-snapshot
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1038/25159openalex-snapshot
Identification of the receptor component of the IκBα–ubiquitin ligase
inferredcites →https://doi.org/10.1038/416703aopenalex-snapshot
Structure of the Cul1–Rbx1–Skp1–F boxSkp2 SCF ubiquitin ligase complex
inferredcites →https://doi.org/10.1038/ncb1003-845openalex-snapshot
Diverse roles for ubiquitin-dependent proteolysis in transcriptional activation
inferredcites →https://doi.org/10.1038/ng1238openalex-snapshot
Mutations in NHLRC1 cause progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1056/nejm198607313150506openalex-snapshot
Progressive Myoclonus Epilepsies: Specific Causes and Diagnosis
inferredcites →https://doi.org/10.1073/pnas.160255697openalex-snapshot
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
inferredcites →https://doi.org/10.1073/pnas.96.20.11364openalex-snapshot
RING fingers mediate ubiquitin-conjugating enzyme (E2)-dependent ubiquitination
inferredcites →https://doi.org/10.1074/jbc.272.38.24054openalex-snapshot
The Activity of Cdc14p, an Oligomeric Dual Specificity Protein Phosphatase from Saccharomyces cerevisiae, Is Required for Cell Cycle Progression
inferredcites →https://doi.org/10.1074/jbc.273.22.13375openalex-snapshot
The Tumor Suppressor, PTEN/MMAC1, Dephosphorylates the Lipid Second Messenger, Phosphatidylinositol 3,4,5-Trisphosphate
inferredcites →https://doi.org/10.1074/jbc.c100686200openalex-snapshot
A Unique Carbohydrate Binding Domain Targets the Lafora Disease Phosphatase to Glycogen
inferredcites →https://doi.org/10.1074/jbc.m005541200openalex-snapshot
Identification of Binding Sites on Protein Targeting to Glycogen for Enzymes of Glycogen Metabolism
inferredcites →https://doi.org/10.1093/brain/78.3.325openalex-snapshot
PROGRESSIVE FAMILIAL MYOCLONIC EPILEPSY IN THREE FAMILIES: ITS CLINICAL FEATURES AND PATHOLOGICAL BASIS: AN APPENDIX ON THE GENETIC ASPECTS
inferredcites →https://doi.org/10.1093/emboj/21.3.355openalex-snapshot
Identification of a ubiquitin–protein ligase subunit within the CCR4–NOT transcription repressor complex
inferredcites →https://doi.org/10.1093/hmg/8.2.345openalex-snapshot
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
inferredcites →https://doi.org/10.1093/hmg/ddg340openalex-snapshot
Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation
inferredcites →https://doi.org/10.1093/hmg/ddh130openalex-snapshot
Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1093/oxfordjournals.hmg.a018916openalex-snapshot
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
inferredcites →https://doi.org/10.1097/00004691-199107010-00003openalex-snapshot
Progressive Myoclonus Epilepsies
inferredcites →https://doi.org/10.1101/gad.1119403openalex-snapshot
Model of the Brain Tumor–Pumilio translation repressor complex
inferredcites →https://doi.org/10.1104/pp.104.052423openalex-snapshot
Functional Analysis of the RING-Type Ubiquitin Ligase Family of Arabidopsi s
inferredcites →https://doi.org/10.1111/j.1528-1167.1993.tb06256.xopenalex-snapshot
Progressive Myoclonus Epilepsies: Clinical and Genetic Aspects
inferredcites →https://doi.org/10.1126/science.272.5266.1328openalex-snapshot
Crystal Structure of the Dual Specificity Protein Phosphatase VHR
inferredcites →https://doi.org/10.1126/science.275.5305.1475openalex-snapshot
PTG, a Protein Phosphatase 1-Binding Protein with a Role in Glycogen Metabolism
inferredcites →https://doi.org/10.1126/science.286.5438.309openalex-snapshot
The Tyrosine Kinase Negative Regulator c-Cbl as a RING-Type, E2-Dependent Ubiquitin-Protein Ligase
inferredcites →https://doi.org/10.1126/science.290.5496.1594openalex-snapshot
Disruption of Signaling by Yersinia Effector YopJ, a Ubiquitin-Like Protein Protease
inferredcites →https://doi.org/10.1128/mcb.22.14.5222-5234.2002openalex-snapshot
PIAS Proteins Modulate Transcription Factors by Functioning as SUMO-1 Ligases
inferredcites →https://doi.org/10.1146/annurev.biochem.67.1.425openalex-snapshot
THE UBIQUITIN SYSTEM
inferredcites →https://doi.org/10.1146/annurev.biochem.70.1.503openalex-snapshot
Mechanisms Underlying Ubiquitination
inferredcites →https://doi.org/10.1210/rp.56.1.157openalex-snapshot
The Role of Protein Phosphatase-1 in Insulin Action
inferredcites →https://doi.org/10.1212/01.wnl.0000133215.65836.03openalex-snapshot
Progressive myoclonus epilepsy with polyglucosans (Lafora disease)
inferredcites →https://doi.org/10.1212/wnl.31.12.1564openalex-snapshot
Sweat gland duct cells in Lafora disease

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.3904359openalex-extracted
inferred← citeshttps://doi.org/10.1002/ana.22156openalex-snapshot
Glycogen hyperphosphorylation underlies lafora body formation
inferred← citeshttps://doi.org/10.1002/ana.23899openalex-snapshot
Inhibiting glycogen synthesis prevents lafora disease in a mouse model
inferred← citeshttps://doi.org/10.1002/ana.24104openalex-snapshot
PTG protein depletion rescues malin‐deficient Lafora disease in mouse
inferred← citeshttps://doi.org/10.1002/cphy.c120032openalex-snapshot
Broad Spectrum of Hepatocyte Inclusions in Humans, Animals, and Experimental Models
inferred← citeshttps://doi.org/10.1002/ctm2.70514openalex-snapshot
Advances in gene therapy for Lafora disease: Intravenous recombinant adeno‐associated virus‐mediated delivery of EPM2A and EPM2B genes
inferred← citeshttps://doi.org/10.1002/emmm.201100174openalex-snapshot
Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease
inferred← citeshttps://doi.org/10.1002/emmm.201200241openalex-snapshot
Deleterious effects of neuronal accumulation of glycogen in flies and mice
inferred← citeshttps://doi.org/10.1002/humu.20954openalex-snapshot
Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes
inferred← citeshttps://doi.org/10.1002/iub.1072openalex-snapshot
Deciphering the role of malin in the lafora progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1002/j.2040-4603.2013.tb00527.xopenalex-snapshot
Broad Spectrum of Hepatocyte Inclusions in Humans, Animals, and Experimental Models
inferred← citeshttps://doi.org/10.1002/jcb.24507openalex-snapshot
Muscle glycogen synthase isoform is responsible for testicular glycogen synthesis: Glycogen overproduction induces apoptosis in male germ cells
inferred← citeshttps://doi.org/10.1002/mgg3.2228openalex-snapshot
MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease
inferred← citeshttps://doi.org/10.1007/978-1-4419-0461-4_603openalex-snapshot
Laforin: Function and Action of a Glucan Phosphatase
inferred← citeshttps://doi.org/10.1007/978-1-4614-6438-9_603-1openalex-snapshot
Laforin: Function and Action of a Glucan Phosphatase
inferred← citeshttps://doi.org/10.1007/978-1-4614-6438-9_603-2openalex-snapshot
Laforin
inferred← citeshttps://doi.org/10.1007/978-1-4614-7855-3_13openalex-snapshot
Glycogen Metabolism and Lafora Disease
inferred← citeshttps://doi.org/10.1007/978-3-030-27480-1_2openalex-snapshot
Brain Glycogen Structure and Its Associated Proteins: Past, Present and Future
inferred← citeshttps://doi.org/10.1007/978-3-030-27480-1_3openalex-snapshot
Structure and Regulation of Glycogen Synthase in the Brain
inferred← citeshttps://doi.org/10.1007/978-3-031-35176-1_6openalex-snapshot
Epidemiology, Genetics and Epigenetics of Biological Aging: One or More Aging Systems?
inferred← citeshttps://doi.org/10.1007/978-3-319-67199-4_603openalex-snapshot
Laforin
inferred← citeshttps://doi.org/10.1007/978-90-481-3795-4_8openalex-snapshot
Utilizing Red Algae to Understand a Neurodegenerative Disease
inferred← citeshttps://doi.org/10.1007/s00109-011-0758-yopenalex-snapshot
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
inferred← citeshttps://doi.org/10.1007/s00401-024-02698-xopenalex-snapshot
Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses
inferred← citeshttps://doi.org/10.1007/s00726-011-0835-0openalex-snapshot
Prediction of lysine ubiquitination with mRMR feature selection and analysis
inferred← citeshttps://doi.org/10.1007/s10038-005-0321-1openalex-snapshot
Recent advances in the molecular basis of Lafora’s progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1007/s10048-009-0190-4openalex-snapshot
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
inferred← citeshttps://doi.org/10.1007/s11910-007-0066-7openalex-snapshot
Advances in Lafora progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1007/s12035-012-8273-xopenalex-snapshot
E3 Ubiquitin Ligases in Protein Quality Control Mechanism
inferred← citeshttps://doi.org/10.1007/s12035-012-8351-0openalex-snapshot
Misfolded Proteins Recognition Strategies of E3 Ubiquitin Ligases and Neurodegenerative Diseases
inferred← citeshttps://doi.org/10.1007/s12035-013-8438-2openalex-snapshot
Laforin Prevents Stress-Induced Polyglucosan Body Formation and Lafora Disease Progression in Neurons
inferred← citeshttps://doi.org/10.1007/s12035-013-8546-zopenalex-snapshot
Laforin–Malin Complex Degrades Polyglucosan Bodies in Concert with Glycogen Debranching Enzyme and Brain Isoform Glycogen Phosphorylase
inferred← citeshttps://doi.org/10.1007/s12035-019-01842-zopenalex-snapshot
Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age
inferred← citeshttps://doi.org/10.1007/s12035-020-02170-3openalex-snapshot
Trehalose Ameliorates Seizure Susceptibility in Lafora Disease Mouse Models by Suppressing Neuroinflammation and Endoplasmic Reticulum Stress
inferred← citeshttps://doi.org/10.1007/s12035-021-02285-1openalex-snapshot
Modulators of Neuroinflammation Have a Beneficial Effect in a Lafora Disease Mouse Model
inferred← citeshttps://doi.org/10.1007/s12038-015-9570-0openalex-snapshot
Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease
inferred← citeshttps://doi.org/10.1007/s12038-023-00407-6openalex-snapshot
Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
inferred← citeshttps://doi.org/10.1007/s12041-018-0949-1openalex-snapshot
Lafora disease: from genotype to phenotype
inferred← citeshttps://doi.org/10.1007/s13311-021-01040-7openalex-snapshot
Targeting Gys1 with AAV‐SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
inferred← citeshttps://doi.org/10.1007/s13311-022-01240-9openalex-snapshot
Two Diseases—One Preclinical Treatment Targeting Glycogen Synthesis
inferred← citeshttps://doi.org/10.1007/s13311-022-01304-wopenalex-snapshot
Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease
inferred← citeshttps://doi.org/10.1007/s13311-023-01434-9openalex-snapshot
Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model
inferred← citeshttps://doi.org/10.1016/b978-0-12-374105-9.00338-5openalex-snapshot
Lafora Disease
inferred← citeshttps://doi.org/10.1016/b978-0-12-411573-6.00012-7openalex-snapshot
Myoclonus
inferred← citeshttps://doi.org/10.1016/b978-0-12-802937-4.00010-7openalex-snapshot
Autophagy Defects and Lafora Disease
inferred← citeshttps://doi.org/10.1016/b978-0-323-31071-0.00018-4openalex-snapshot
Myoclonus
inferred← citeshttps://doi.org/10.1016/b978-0-443-07941-2.50024-3openalex-snapshot
Myoclonus
inferred← citeshttps://doi.org/10.1016/b978-0-7020-3485-5.00019-xopenalex-snapshot
Metabolic and storage diseases
inferred← citeshttps://doi.org/10.1016/b978-0-7020-3485-5.00060-7openalex-snapshot
18 Metabolic and storage diseases
inferred← citeshttps://doi.org/10.1016/b978-012373961-2.00066-7openalex-snapshot
GENETICS | Genetics of Lafora and Juvenile Myoclonic Epilepsies
inferred← citeshttps://doi.org/10.1016/b978-1-4377-2369-4.00020-2openalex-snapshot
Myoclonus
inferred← citeshttps://doi.org/10.1016/j.abb.2006.10.017openalex-snapshot
Glycogen metabolism in tissues from a mouse model of Lafora disease
inferred← citeshttps://doi.org/10.1016/j.bbacli.2016.02.001openalex-snapshot
Glycogen metabolism in humans
inferred← citeshttps://doi.org/10.1016/j.bbrc.2006.09.091openalex-snapshot
Relationship between glycogen accumulation and the laforin dual specificity phosphatase
inferred← citeshttps://doi.org/10.1016/j.bbrc.2015.06.018openalex-snapshot
Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway
inferred← citeshttps://doi.org/10.1016/j.biocel.2013.04.019openalex-snapshot
Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin–malin complex
inferred← citeshttps://doi.org/10.1016/j.biocel.2015.10.030openalex-snapshot
Ubiquitin conjugating enzyme E2-N and sequestosome-1 (p62) are components of the ubiquitination process mediated by the malin–laforin E3-ubiquitin ligase complex
inferred← citeshttps://doi.org/10.1016/j.carbpol.2020.116260openalex-snapshot
Polyglucosan body structure in Lafora disease
inferred← citeshttps://doi.org/10.1016/j.carbpol.2024.122631openalex-snapshot
Glycogen metabolism and structure: A review
inferred← citeshttps://doi.org/10.1016/j.cellsig.2011.06.018openalex-snapshot
Akt phosphorylation at Thr308 and Ser473 is required for CHIP-mediated ubiquitination of the kinase
inferred← citeshttps://doi.org/10.1016/j.cels.2025.101488openalex-snapshot
The Smarcal1-Usp37 locus modulates glycogen aggregation in astrocytes of the aged hippocampus
inferred← citeshttps://doi.org/10.1016/j.chemolab.2018.11.012openalex-snapshot
UbiSitePred: A novel method for improving the accuracy of ubiquitination sites prediction by using LASSO to select the optimal Chou's pseudo components
inferred← citeshttps://doi.org/10.1016/j.clinbiochem.2013.08.016openalex-snapshot
A bioassay for Lafora disease and laforin glucan phosphatase activity
inferred← citeshttps://doi.org/10.1016/j.clinbiochem.2021.03.017openalex-snapshot
Generation and characterization of a laforin nanobody inhibitor
inferred← citeshttps://doi.org/10.1016/j.clineuro.2022.107255openalex-snapshot
Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease
inferred← citeshttps://doi.org/10.1016/j.cmet.2013.04.006openalex-snapshot
Hyperphosphorylation of Glucosyl C6 Carbons and Altered Structure of Glycogen in the Neurodegenerative Epilepsy Lafora Disease
inferred← citeshttps://doi.org/10.1016/j.cmet.2019.08.014openalex-snapshot
Nuclear Glycogenolysis Modulates Histone Acetylation in Human Non-Small Cell Lung Cancers
inferred← citeshttps://doi.org/10.1016/j.dnarep.2015.02.011openalex-snapshot
Regulation of translesion DNA synthesis: Posttranslational modification of lysine residues in key proteins
inferred← citeshttps://doi.org/10.1016/j.eplepsyres.2018.07.003openalex-snapshot
A novel EPM2A mutation yields a slow progression form of Lafora disease
inferred← citeshttps://doi.org/10.1016/j.eplepsyres.2024.107317openalex-snapshot
Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice
inferred← citeshttps://doi.org/10.1016/j.expneurol.2012.04.008openalex-snapshot
Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice
inferred← citeshttps://doi.org/10.1016/j.expneurol.2021.113656openalex-snapshot
Dexamethasone-induced activation of heat shock response ameliorates seizure susceptibility and neuroinflammation in mouse models of Lafora disease
inferred← citeshttps://doi.org/10.1016/j.freeradbiomed.2015.01.034openalex-snapshot
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1016/j.freeradbiomed.2023.06.016openalex-snapshot
Frataxin inhibits the sensitivity of the myocardium to ferroptosis by regulating iron homeostasis
inferred← citeshttps://doi.org/10.1016/j.gene.2026.150121openalex-snapshot
Trim-mediated ubiquitin signaling in epilepsy: From synaptic dysregulation to neuroinflammatory network remodeling
inferred← citeshttps://doi.org/10.1016/j.heliyon.2024.e32517openalex-snapshot
Predictive modeling for ubiquitin proteins through advanced machine learning technique
inferred← citeshttps://doi.org/10.1016/j.isci.2020.101136openalex-snapshot
Glycogenolysis Is Crucial for Astrocytic Glycogen Accumulation and Brain Damage after Reperfusion in Ischemic Stroke
inferred← citeshttps://doi.org/10.1016/j.isci.2021.103276openalex-snapshot
An Empirical Pipeline for Personalized Diagnosis of Lafora Disease Mutations
inferred← citeshttps://doi.org/10.1016/j.jbc.2024.107271openalex-snapshot
Impaired malin expression and interaction with partner proteins in Lafora disease
inferred← citeshttps://doi.org/10.1016/j.jbc.2025.111097openalex-snapshot
The biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism
inferred← citeshttps://doi.org/10.1016/j.mam.2015.08.003openalex-snapshot
Glycogen phosphorylation and Lafora disease
inferred← citeshttps://doi.org/10.1016/j.mam.2015.08.006openalex-snapshot
Polyglucosan storage myopathies
inferred← citeshttps://doi.org/10.1016/j.mam.2015.08.007openalex-snapshot
Brain glycogen in health and disease
inferred← citeshttps://doi.org/10.1016/j.molmed.2011.02.005openalex-snapshot
Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies
inferred← citeshttps://doi.org/10.1016/j.nbd.2011.06.013openalex-snapshot
Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis
inferred← citeshttps://doi.org/10.1016/j.nbd.2017.01.002openalex-snapshot
Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models
inferred← citeshttps://doi.org/10.1016/j.nbd.2020.105173openalex-snapshot
Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity
inferred← citeshttps://doi.org/10.1016/j.nbd.2022.105964openalex-snapshot
TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1016/j.nbd.2023.105998openalex-snapshot
P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
inferred← citeshttps://doi.org/10.1016/j.nbd.2023.106119openalex-snapshot
Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a mice
inferred← citeshttps://doi.org/10.1016/j.neulet.2005.07.002openalex-snapshot
Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins
inferred← citeshttps://doi.org/10.1016/j.neurol.2021.06.006openalex-snapshot
Lafora disease: Current biology and therapeutic approaches
inferred← citeshttps://doi.org/10.1016/j.neuroscience.2019.12.030openalex-snapshot
Ubiquitination and E3 Ubiquitin Ligases in Rare Neurological Diseases with Comorbid Epilepsy
inferred← citeshttps://doi.org/10.1016/j.neurot.2026.e00866openalex-snapshot
Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation
inferred← citeshttps://doi.org/10.1016/j.pediatrneurol.2011.01.012openalex-snapshot
Rapidly Progressive Phenotype of Lafora Disease Associated With a Novel NHLRC1 Mutation
inferred← citeshttps://doi.org/10.1016/j.pep.2010.02.004openalex-snapshot
Escherichia coli expression, refolding and characterization of human laforin
inferred← citeshttps://doi.org/10.1016/j.pneurobio.2026.102912openalex-snapshot
Epm2bP71A and Epm2bD148N knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations
inferred← citeshttps://doi.org/10.1016/j.seizure.2012.12.014openalex-snapshot
A novel nonsense mutation of the EPM2A gene in Northwest Greece causing myoclonic epilepsy
inferred← citeshttps://doi.org/10.1016/j.tibs.2009.08.002openalex-snapshot
Lafora disease: insights into neurodegeneration from plant metabolism
inferred← citeshttps://doi.org/10.1016/j.yebeh.2025.110654openalex-snapshot
The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness
inferred← citeshttps://doi.org/10.1016/j.ygeno.2011.10.001openalex-snapshot
Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1016/j.ymthe.2024.05.032openalex-snapshot
Gene therapy for Lafora disease in the Epm2a mouse model
inferred← citeshttps://doi.org/10.1016/s0035-3787(07)92642-9openalex-snapshot
Épilepsie myoclonique progressive révélant une maladie de Lafora
inferred← citeshttps://doi.org/10.1016/s1607-551x(09)70572-8openalex-snapshot
Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report
inferred← citeshttps://doi.org/10.1017/cbo9780511921001.016openalex-snapshot
Symptomatic epilepsy
inferred← citeshttps://doi.org/10.1017/cbo9780511921001.020openalex-snapshot
Lafora body disease
inferred← citeshttps://doi.org/10.1021/acs.jmedchem.4c02580openalex-snapshot
Discovery and Evaluation of Active Site-Directed, Potent, and Selective Sulfophenyl Acetic Amide-Based Inhibitors for the Laforin Phosphatase
inferred← citeshttps://doi.org/10.1021/bi9008853openalex-snapshot
Structural Insights into Glucan Phosphatase Dynamics Using Amide Hydrogen−Deuterium Exchange Mass Spectrometry
inferred← citeshttps://doi.org/10.1038/mp.a000032.01openalex-snapshot
Laforin
inferred← citeshttps://doi.org/10.1038/ncpneuro0706openalex-snapshot
Typical progression of myoclonic epilepsy of the Lafora type: a case report
inferred← citeshttps://doi.org/10.1038/nn1107-1341openalex-snapshot
Glycogen: a Trojan horse for neurons
inferred← citeshttps://doi.org/10.1038/nn1998openalex-snapshot
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1038/pr.2013.185openalex-snapshot
Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases
inferred← citeshttps://doi.org/10.1038/s41467-019-08810-0openalex-snapshot
Cellular TRIM33 restrains HIV-1 infection by targeting viral integrase for proteasomal degradation
inferred← citeshttps://doi.org/10.1038/s41467-022-33693-zopenalex-snapshot
Molecular architecture of the glycogen- committed PP1/PTG holoenzyme
inferred← citeshttps://doi.org/10.1038/s41467-023-38437-1openalex-snapshot
Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis
inferred← citeshttps://doi.org/10.1042/bj20110150openalex-snapshot
Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase
inferred← citeshttps://doi.org/10.1042/bj20111416openalex-snapshot
Glycogen and its metabolism: some new developments and old themes
inferred← citeshttps://doi.org/10.1042/bsr20140053openalex-snapshot
The carbohydrate-binding domain of overexpressed STBD1 is important for its stability and protein–protein interactions
inferred← citeshttps://doi.org/10.1073/pnas.0707952104openalex-snapshot
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
inferred← citeshttps://doi.org/10.1074/jbc.m109.006312openalex-snapshot
Co-chaperone CHIP Stabilizes Aggregate-prone Malin, a Ubiquitin Ligase Mutated in Lafora Disease
inferred← citeshttps://doi.org/10.1074/jbc.m109.009688openalex-snapshot
Hyperphosphorylation and Aggregation of Tau in Laforin-deficient Mice, an Animal Model for Lafora Disease
inferred← citeshttps://doi.org/10.1074/jbc.m110.148668openalex-snapshot
Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin
inferred← citeshttps://doi.org/10.1074/jbc.m111.315135openalex-snapshot
Malin Regulates Wnt Signaling Pathway through Degradation of Dishevelled2
inferred← citeshttps://doi.org/10.1074/jbc.m111.331611openalex-snapshot
Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease
inferred← citeshttps://doi.org/10.1074/jbc.m112.416180openalex-snapshot
Neuronatin-mediated Aberrant Calcium Signaling and Endoplasmic Reticulum Stress Underlie Neuropathology in Lafora Disease
inferred← citeshttps://doi.org/10.1074/jbc.m114.580167openalex-snapshot
Protein Degradation and Quality Control in Cells from Laforin and Malin Knockout Mice
inferred← citeshttps://doi.org/10.1074/jbc.m114.627406openalex-snapshot
Dimeric Quaternary Structure of Human Laforin
inferred← citeshttps://doi.org/10.1074/jbc.m606117200openalex-snapshot
Laforin, a Dual Specificity Phosphatase That Dephosphorylates Complex Carbohydrates
inferred← citeshttps://doi.org/10.1074/jbc.m607778200openalex-snapshot
Dimerization of Laforin Is Required for Its Optimal Phosphatase Activity, Regulation of GSK3β Phosphorylation, and Wnt Signaling
inferred← citeshttps://doi.org/10.1074/jbc.m708712200openalex-snapshot
Malin Decreases Glycogen Accumulation by Promoting the Degradation of Protein Targeting to Glycogen (PTG)
inferred← citeshttps://doi.org/10.1074/jbc.m807428200openalex-snapshot
Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease
inferred← citeshttps://doi.org/10.1074/jbc.r117.803064openalex-snapshot
Lafora disease offers a unique window into neuronal glycogen metabolism
inferred← citeshttps://doi.org/10.1074/jbc.ra120.015773openalex-snapshot
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice
inferred← citeshttps://doi.org/10.1080/07391102.2014.1001793openalex-snapshot
A method to distinguish between lysine acetylation and lysine ubiquitination with feature selection and analysis
inferred← citeshttps://doi.org/10.1080/14737175.2018.1503949openalex-snapshot
New discoveries in progressive myoclonus epilepsies: a clinical outlook
inferred← citeshttps://doi.org/10.1083/jcb.200704094openalex-snapshot
The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease
inferred← citeshttps://doi.org/10.1091/mbc.e10-03-0227openalex-snapshot
The Laforin–Malin Complex, Involved in Lafora Disease, Promotes the Incorporation of K63-linked Ubiquitin Chains into AMP-activated Protein Kinase β Subunits
inferred← citeshttps://doi.org/10.1093/bib/bbu031openalex-snapshot
Towards more accurate prediction of ubiquitination sites: a comprehensive review of current methods, tools and features
inferred← citeshttps://doi.org/10.1093/bioinformatics/btt196openalex-snapshot
Incorporating key position and amino acid residue features to identify general and species-specific Ubiquitin conjugation sites
inferred← citeshttps://doi.org/10.1093/brain/awab110openalex-snapshot
Astrocytic glycogen accumulation drives the pathophysiology of neurodegeneration in Lafora disease
inferred← citeshttps://doi.org/10.1093/brain/awac017openalex-snapshot
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency
inferred← citeshttps://doi.org/10.1093/brain/awt353openalex-snapshot
The phosphatase activity of laforin is dispensable to rescue Epm2a−/− mice from Lafora disease
inferred← citeshttps://doi.org/10.1093/brain/awu018openalex-snapshot
Lafora’s odyssey reaches a mysterious port of call
inferred← citeshttps://doi.org/10.1093/braincomms/fcac168openalex-snapshot
Malin restoration as proof of concept for gene therapy for Lafora disease
inferred← citeshttps://doi.org/10.1093/braincomms/fcae104openalex-snapshot
1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease
inferred← citeshttps://doi.org/10.1093/hmg/ddi306openalex-snapshot
Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1093/hmg/ddm006openalex-snapshot
Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment
inferred← citeshttps://doi.org/10.1093/hmg/ddm339openalex-snapshot
Regulation of glycogen synthesis by the laforin–malin complex is modulated by the AMP-activated protein kinase pathway
inferred← citeshttps://doi.org/10.1093/hmg/ddn199openalex-snapshot
Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1093/hmg/ddn398openalex-snapshot
The malin–laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin–proteasome system
inferred← citeshttps://doi.org/10.1093/hmg/ddp128openalex-snapshot
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions
inferred← citeshttps://doi.org/10.1093/hmg/ddp167openalex-snapshot
TRIM32 is an E3 ubiquitin ligase for dysbindin
inferred← citeshttps://doi.org/10.1093/hmg/ddp196openalex-snapshot
Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress
inferred← citeshttps://doi.org/10.1093/hmg/ddq190openalex-snapshot
Laforin, the most common protein mutated in Lafora disease, regulates autophagy
inferred← citeshttps://doi.org/10.1093/hmg/ddq407openalex-snapshot
Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin
inferred← citeshttps://doi.org/10.1093/hmg/ddr157openalex-snapshot
Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice
inferred← citeshttps://doi.org/10.1093/hmg/ddr590openalex-snapshot
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy
inferred← citeshttps://doi.org/10.1093/med/9780197549469.003.0053openalex-snapshot
Therapeutic Window for the Treatment of Lafora Disease
inferred← citeshttps://doi.org/10.1093/med/9780199746545.003.0068openalex-snapshot
Progressive Myoclonus Epilepsy of Lafora
inferred← citeshttps://doi.org/10.1096/fj.201901463rropenalex-snapshot
Is liver glycogen fragility a possible drug target for diabetes?
inferred← citeshttps://doi.org/10.1097/nen.0b013e318253350fopenalex-snapshot
Laforin and Malin Deletions in Mice Produce Similar Neurologic Impairments
inferred← citeshttps://doi.org/10.1097/wnr.0000000000000751openalex-snapshot
4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease
inferred← citeshttps://doi.org/10.1101/2021.01.07.425697openalex-snapshot
Capsule network for protein ubiquitination site prediction
inferred← citeshttps://doi.org/10.1101/2023.12.14.571636openalex-snapshot
Gene replacement therapy for Lafora disease in the Epm2a -/- mouse model
inferred← citeshttps://doi.org/10.1101/277392openalex-snapshot
Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration
inferred← citeshttps://doi.org/10.1101/681833openalex-snapshot
Compartmentalized glycogenolysis regulates lung cancer transcription
inferred← citeshttps://doi.org/10.1101/gad.1553207openalex-snapshot
A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori’s disease
inferred← citeshttps://doi.org/10.1111/1440-1681.12370openalex-snapshot
Myocardial glycogen dynamics: New perspectives on disease mechanisms
inferred← citeshttps://doi.org/10.1111/epi.13656openalex-snapshot
Sodium selenate treatment improves symptoms and seizure susceptibility in a malin‐deficient mouse model of Lafora disease
inferred← citeshttps://doi.org/10.1111/febs.14468openalex-snapshot
Degradation of altered mitochondria by autophagy is impaired in Lafora disease
inferred← citeshttps://doi.org/10.1111/j.1528-1167.2009.02117.xopenalex-snapshot
The autosomal recessively inherited progressive myoclonus epilepsies and their genes
inferred← citeshttps://doi.org/10.1111/j.1528-1167.2010.02692.xopenalex-snapshot
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
inferred← citeshttps://doi.org/10.1111/j.1742-4658.2008.06250.xopenalex-snapshot
Protein tyrosine phosphatases: dual‐specificity phosphatases in health and disease
inferred← citeshttps://doi.org/10.1111/j.1742-4658.2012.08549.xopenalex-snapshot
Laforin, a protein with many faces: glucan phosphatase, adapter protein, et alii
inferred← citeshttps://doi.org/10.1111/j.1742-4658.2012.08627.xopenalex-snapshot
Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells
inferred← citeshttps://doi.org/10.1111/j.1748-1716.2010.02131.xopenalex-snapshot
The regulation of muscle glycogen: the granule and its proteins
inferred← citeshttps://doi.org/10.1111/jnc.15926openalex-snapshot
The multifaceted roles of the brain glycogen
inferred← citeshttps://doi.org/10.1128/mcb.06353-11openalex-snapshot
The Laforin-Malin Complex Negatively Regulates Glycogen Synthesis by Modulating Cellular Glucose Uptake via Glucose Transporters
inferred← citeshttps://doi.org/10.1136/jmg.2005.039479openalex-snapshot
Novel NHLRC1 mutations and genotype–phenotype correlations in patients with Lafora’s progressive myoclonic epilepsy
inferred← citeshttps://doi.org/10.1139/h09-048openalex-snapshot
Glycogen: an overview of possible regulatory roles of the proteins associated with the granuleThis paper is one of a selection of papers published in this Special Issue, entitled 14th International Biochemistry of Exercise Conference – Muscles as Molecular and Metabolic Machines, and has undergone…
inferred← citeshttps://doi.org/10.1152/ajpendo.00525.2010openalex-snapshot
Exercise training does not correct abnormal cardiac glycogen accumulation in thedb/dbmouse model of type 2 diabetes
inferred← citeshttps://doi.org/10.1155/jbb/2006/74539openalex-snapshot
Tau Phosphorylation, Aggregation, and Cell Toxicity
inferred← citeshttps://doi.org/10.1177/0300985811412622openalex-snapshot
Mapping of Purkinje Neuron Loss and Polyglucosan Body Accumulation in Hereditary Cerebellar Degeneration in Scottish Terriers
inferred← citeshttps://doi.org/10.1177/0300985818758471openalex-snapshot
Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion
inferred← citeshttps://doi.org/10.1186/1471-2091-15-8openalex-snapshot
Expression, purification and characterization of soluble red rooster laforin as a fusion protein in Escherichia coli
inferred← citeshttps://doi.org/10.1186/1471-2148-11-225openalex-snapshot
Lafora disease E3-ubiquitin ligase malin is related to TRIM32 at both the phylogenetic and functional level
inferred← citeshttps://doi.org/10.1186/1471-2148-9-138openalex-snapshot
Conservation of the glucan phosphatase laforin is linked to rates of molecular evolution and the glucan metabolism of the organism
inferred← citeshttps://doi.org/10.1186/1755-8166-5-17openalex-snapshot
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
inferred← citeshttps://doi.org/10.1186/s13023-023-02880-6openalex-snapshot
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data
inferred← citeshttps://doi.org/10.1186/s13148-026-02184-zopenalex-snapshot
Genetic and epigenetic underpinnings of biological aging: a multi-omics study integrating Mendelian randomization, spatial transcriptomics, and drug target discovery
inferred← citeshttps://doi.org/10.1210/me.2014-1180openalex-snapshot
Minireview: Hey U(PS): Metabolic and Proteolytic Homeostasis Linked via AMPK and the Ubiquitin Proteasome System
inferred← citeshttps://doi.org/10.1212/01.wnl.0000258561.02248.2fopenalex-snapshot
Genetic diagnosis in Lafora disease
inferred← citeshttps://doi.org/10.1242/dmm.049802openalex-snapshot
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
inferred← citeshttps://doi.org/10.1242/dmm.050905openalex-snapshot
Neuromuscular junction dysfunction in Lafora disease
inferred← citeshttps://doi.org/10.1242/jcs.082800openalex-snapshot
Malin and laforin are essential components of a protein complex that protects cells from thermal stress
inferred← citeshttps://doi.org/10.1371/journal.pone.0005907openalex-snapshot
Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin
inferred← citeshttps://doi.org/10.1371/journal.pone.0021294openalex-snapshot
A PTG Variant Contributes to a Milder Phenotype in Lafora Disease
inferred← citeshttps://doi.org/10.1371/journal.pone.0024040openalex-snapshot
Laforin, a Dual Specificity Phosphatase Involved in Lafora Disease, Is Present Mainly as Monomeric Form with Full Phosphatase Activity
inferred← citeshttps://doi.org/10.1371/journal.pone.0069523openalex-snapshot
Dimerization of the Glucan Phosphatase Laforin Requires the Participation of Cysteine 329
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