On the public citation graph
Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration
0 signed · 65 inferred · view as graph
Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.
Is this your work? Sign in with ORCID and put your name on the
claims that are yours.
Reference health. See whether every reference in this work resolves to a
known work and none has been retracted — and get a dated CiteStamped
badge you can embed.
What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1001/archneur.1979.00500490054009openalex-snapshot
Adult Polysaccharidosis
inferredcites →https://doi.org/10.1002/ana.22156openalex-snapshot
Glycogen hyperphosphorylation underlies lafora body formation
inferredcites →https://doi.org/10.1002/ana.23963openalex-snapshot
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
inferredcites →https://doi.org/10.1002/ana.410440604openalex-snapshot
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329 Ser mutation in the glycogen‐branching enzyme gene
inferredcites →https://doi.org/10.1002/emmm.201100174openalex-snapshot
Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease
inferredcites →https://doi.org/10.1002/glia.20207openalex-snapshot
Astrocyte activation and reactive gliosis
inferredcites →https://doi.org/10.1006/abio.2000.4791openalex-snapshot
A Fast Method for Measurement of Branching Enzyme Activity Using a Thin-Layer Chromatography-Based Phosphorylase a Stimulation Assay
inferredcites →https://doi.org/10.1007/bf00687554openalex-snapshot
Histochemical and biochemical aspects of corpora amylacea
inferredcites →https://doi.org/10.1007/bf00699644openalex-snapshot
Alterations in the hippocampus of aged mice
inferredcites →https://doi.org/10.1007/bf03001163openalex-snapshot
Conditional and unconditional components of post-shock freezing
inferredcites →https://doi.org/10.1007/s12035-015-9091-8openalex-snapshot
Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease
inferredcites →https://doi.org/10.1016/0144-8617(91)90071-jopenalex-snapshot
Recent developments in our understanding of glycogen structure
inferredcites →https://doi.org/10.1016/b978-0-12-457950-7.x5001-3openalex-snapshot
A Flexible System of Enzymatic Analysis
inferredcites →https://doi.org/10.1016/j.bbacli.2016.02.001openalex-snapshot
Glycogen metabolism in humans
inferredcites →https://doi.org/10.1016/j.bbrc.2006.09.163openalex-snapshot
Mutual regulation of conventional protein kinase C and a ubiquitin ligase complex
inferredcites →https://doi.org/10.1016/j.celrep.2014.08.066openalex-snapshot
HOIP Deficiency Causes Embryonic Lethality by Aberrant TNFR1-Mediated Endothelial Cell Death
inferredcites →https://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
inferredcites →https://doi.org/10.1016/j.nbd.2013.04.021openalex-snapshot
Restoring endoplasmic reticulum homeostasis improves functional recovery after spinal cord injury
inferredcites →https://doi.org/10.1016/s0165-0173(99)00003-xopenalex-snapshot
Corpora-amylacea and the family of polyglucosan diseases
inferredcites →https://doi.org/10.1021/bm401714vopenalex-snapshot
Changes in Glycogen Structure over Feeding Cycle Sheds New Light on Blood-Glucose Control
inferredcites →https://doi.org/10.1037//0735-7044.106.2.274openalex-snapshot
Differential contribution of amygdala and hippocampus to cued and contextual fear conditioning.
inferredcites →https://doi.org/10.1037/h0028589openalex-snapshot
Species-specific defense reactions and avoidance learning.
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/embor.2012.105openalex-snapshot
LUBAC synthesizes linear ubiquitin chains via a thioester intermediate
inferredcites →https://doi.org/10.1038/nature09815openalex-snapshot
SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex
inferredcites →https://doi.org/10.1038/ncb1821openalex-snapshot
Involvement of linear polyubiquitylation of NEMO in NF-κB activation
inferredcites →https://doi.org/10.1038/ncb952openalex-snapshot
Identification of the ubiquitin–protein ligase that recognizes oxidized IRP2
inferredcites →https://doi.org/10.1038/ng1238openalex-snapshot
Mutations in NHLRC1 cause progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1038/ni.2457openalex-snapshot
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
inferredcites →https://doi.org/10.1038/nn1998openalex-snapshot
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy
inferredcites →https://doi.org/10.1038/sj.emboj.7601360openalex-snapshot
A ubiquitin ligase complex assembles linear polyubiquitin chains
inferredcites →https://doi.org/10.1042/bcj20170469openalex-snapshot
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease
inferredcites →https://doi.org/10.1042/bj20111416openalex-snapshot
Glycogen and its metabolism: some new developments and old themes
inferredcites →https://doi.org/10.1073/pnas.0503285102openalex-snapshot
Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin
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.m110.148668openalex-snapshot
Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin
inferredcites →https://doi.org/10.1074/jbc.m115.673897openalex-snapshot
Muscle Glycogen Remodeling and Glycogen Phosphate Metabolism following Exhaustive Exercise of Wild Type and Laforin Knockout Mice
inferredcites →https://doi.org/10.1074/jbc.m606117200openalex-snapshot
Laforin, a Dual Specificity Phosphatase That Dephosphorylates Complex Carbohydrates
inferredcites →https://doi.org/10.1074/jbc.m708712200openalex-snapshot
Malin Decreases Glycogen Accumulation by Promoting the Degradation of Protein Targeting to Glycogen (PTG)
inferredcites →https://doi.org/10.1074/jbc.m807428200openalex-snapshot
Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease
inferredcites →https://doi.org/10.1084/jem.20141130openalex-snapshot
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia
inferredcites →https://doi.org/10.1089/neu.2006.23.537openalex-snapshot
CatWalk-Assisted Gait Analysis in the Assessment of Spinal Cord Injury
inferredcites →https://doi.org/10.1093/brain/103.2.315openalex-snapshot
A DISTINCT FORM OF ADULT POLYGLUCOSAN BODY DISEASE WITH MASSIVE INVOLVEMENT OF CENTRAL AND PERIPHERAL NEURONAL PROCESSES AND ASTROCYTES
inferredcites →https://doi.org/10.1093/hmg/11.11.1251openalex-snapshot
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
inferredcites →https://doi.org/10.1093/hmg/ddr371openalex-snapshot
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV
inferredcites →https://doi.org/10.1093/hmg/ddv385openalex-snapshot
A novel mouse model that recapitulates adult-onset glycogenosis type 4
inferredcites →https://doi.org/10.1097/nen.0000000000000021openalex-snapshot
Progressive Neurodegeneration After Experimental Brain Trauma
inferredcites →https://doi.org/10.1111/imr.12307openalex-snapshot
The multifaceted role of the E3 ubiquitin ligase HOIL ‐1: beyond linear ubiquitination
inferredcites →https://doi.org/10.1124/dmd.112.048728openalex-snapshot
RBCK1, an E3 Ubiquitin Ligase, Interacts with and Ubiquinates the Human Pregnane X Receptor
inferredcites →https://doi.org/10.1128/mcb.21.8.2683-2694.2001openalex-snapshot
Insulin Control of Glycogen Metabolism in Knockout Mice Lacking the Muscle-Specific Protein Phosphatase PP1G/R GL
inferredcites →https://doi.org/10.1164/rccm.201403-0463ocopenalex-snapshot
HOIL-1L Functions as the PKCζ Ubiquitin Ligase to Promote Lung Tumor Growth
inferredcites →https://doi.org/10.1182/blood-2012-04-426247openalex-snapshot
Regulation of APC development, immune response, and autoimmunity by Bach1/HO-1 pathway in mice
inferredcites →https://doi.org/10.1186/gm471openalex-snapshot
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
inferredcites →https://doi.org/10.1212/wnl.0b013e31825dcdacopenalex-snapshot
Phosphorylation prevents polyglucosan transport in Lafora disease
inferredcites →https://doi.org/10.1371/journal.pgen.1002037openalex-snapshot
PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease
inferredcites →https://doi.org/10.15252/emmm.201707608openalex-snapshot
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
inferredcites →https://doi.org/10.1684/epd.2016.0834openalex-snapshot
The history of progressive myoclonus epilepsies
inferredcites →https://doi.org/10.2174/1566524024605815openalex-snapshot
The Variable Presentations of Glycogen Storage Disease Type IV: A Review of Clinical, Enzymatic and Molecular Studies
inferredcites →https://doi.org/10.3390/ijms18081743openalex-snapshot
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan
inferredcites →https://doi.org/10.7554/elife.04494openalex-snapshot
Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1002/ehf2.14702openalex-snapshot
A Novel Likely Pathogenic Homozygous RBCK1 Variant in Dilated Cardiomyopathy with Muscle Weakness
inferred← citeshttps://doi.org/10.1038/s41418-020-00676-wopenalex-snapshot
Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond
inferred← citeshttps://doi.org/10.1101/2021.09.10.459791openalex-snapshot
HOIL-1-catalysed ubiquitylation of unbranched glucosaccharides and its activation by ubiquitin oligomers
Editorial review for independent work. ICSAC — the Institute for Complexity
Science and Advanced Computing — runs a structured editorial panel for researchers
publishing outside journals, and publishes on CiteStamp rails. Submission is free
and goes through ORCID: icsacinstitute.org/submit.