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UBE3A reinstatement restores behavior and proteome in an Angelman Syndrome mouse model of Imprinting Defects

https://doi.org/10.1101/2024.09.29.615689
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What this work says

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

inferredcites →https://doi.org/10.1002/ajmg.a.36058openalex-snapshot
Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis
inferredcites →https://doi.org/10.1002/ajmg.a.61382openalex-snapshot
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome
inferredcites →https://doi.org/10.1007/s10803-020-04861-1openalex-snapshot
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III
inferredcites →https://doi.org/10.1016/j.neuroscience.2020.02.017openalex-snapshot
Angelman Syndrome: From Mouse Models to Therapy
inferredcites →https://doi.org/10.1016/j.tins.2011.04.001openalex-snapshot
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
inferredcites →https://doi.org/10.1021/acs.jproteome.2c00122openalex-snapshot
Biomarker Candidates for Tumors Identified from Deep-Profiled Plasma Stem Predominantly from the Low Abundant Area
inferredcites →https://doi.org/10.1038/526050bopenalex-snapshot
A molecular tightrope
inferredcites →https://doi.org/10.1038/nature13975openalex-snapshot
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
inferredcites →https://doi.org/10.1038/ng0598-15openalex-snapshot
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
inferredcites →https://doi.org/10.1038/nrneurol.2016.133openalex-snapshot
Angelman syndrome — insights into a rare neurogenetic disorder
inferredcites →https://doi.org/10.1038/s41380-022-01484-zopenalex-snapshot
A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets
inferredcites →https://doi.org/10.1038/s41586-020-2835-2openalex-snapshot
Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA
inferredcites →https://doi.org/10.1073/pnas.0506580102openalex-snapshot
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
inferredcites →https://doi.org/10.1073/pnas.1004487107openalex-snapshot
Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes
inferredcites →https://doi.org/10.1074/mcp.m114.044305openalex-snapshot
Extending the Limits of Quantitative Proteome Profiling with Data-Independent Acquisition and Application to Acetaminophen-Treated Three-Dimensional Liver Microtissues
inferredcites →https://doi.org/10.1089/nat.2021.0071openalex-snapshot
Acute Neurotoxicity of Antisense Oligonucleotides After Intracerebroventricular Injection Into Mouse Brain Can Be Predicted from Sequence Features
inferredcites →https://doi.org/10.1093/bioinformatics/btp616openalex-snapshot
edgeR : a Bioconductor package for differential expression analysis of digital gene expression data
inferredcites →https://doi.org/10.1093/bioinformatics/bts635openalex-snapshot
STAR: ultrafast universal RNA-seq aligner
inferredcites →https://doi.org/10.1093/bioinformatics/btt656openalex-snapshot
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
inferredcites →https://doi.org/10.1093/bioinformatics/btw354openalex-snapshot
MultiQC: summarize analysis results for multiple tools and samples in a single report
inferredcites →https://doi.org/10.1093/hmg/10.23.2687openalex-snapshot
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
inferredcites →https://doi.org/10.1093/hmg/dds130openalex-snapshot
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
inferredcites →https://doi.org/10.1093/hmg/ddy345openalex-snapshot
A mouse model of Angelman syndrome imprinting defects
inferredcites →https://doi.org/10.1093/nar/gkaa601openalex-snapshot
Necdin regulates BMAL1 stability and circadian clock through SGT1-HSP90 chaperone machinery
inferredcites →https://doi.org/10.1093/nar/gkab155openalex-snapshot
MKRN3-mediated ubiquitination of Poly(A)-binding proteins modulates the stability and translation of GNRH1 mRNA in mammalian puberty
inferredcites →https://doi.org/10.1093/nar/gks461openalex-snapshot
Camera: a competitive gene set test accounting for inter-gene correlation
inferredcites →https://doi.org/10.1093/nar/gkv007openalex-snapshot
limma powers differential expression analyses for RNA-sequencing and microarray studies
inferredcites →https://doi.org/10.1093/nar/gky1049openalex-snapshot
UniProt: a worldwide hub of protein knowledge
inferredcites →https://doi.org/10.1128/mcb.19.2.1182openalex-snapshot
The Angelman Syndrome-Associated Protein, E6-AP, Is a Coactivator for the Nuclear Hormone Receptor Superfamily
inferredcites →https://doi.org/10.1172/jci.insight.144712openalex-snapshot
Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice
inferredcites →https://doi.org/10.1172/jci.insight.145991openalex-snapshot
Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model
inferredcites →https://doi.org/10.1172/jci.insight.158953openalex-snapshot
Molecular and behavioral consequences of Ube3a gene overdosage in mice
inferredcites →https://doi.org/10.1172/jci80554openalex-snapshot
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model
inferredcites →https://doi.org/10.1186/s13229-018-0231-7openalex-snapshot
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants
inferredcites →https://doi.org/10.1210/me.2005-0110openalex-snapshot
Multifunction Steroid Receptor Coactivator, E6-Associated Protein, Is Involved in Development of the Prostate Gland
inferredcites →https://doi.org/10.1214/16-aoas920openalex-snapshot
Robust hyperparameter estimation protects against hypervariable genes and improves power to detect differential expression
inferredcites →https://doi.org/10.1523/jneurosci.0037-17.2017openalex-snapshot
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice
inferredcites →https://doi.org/10.1523/jneurosci.1262-06.2006openalex-snapshot
Necdin Promotes GABAergic Neuron Differentiation in Cooperation with Dlx Homeodomain Proteins
inferredcites →https://doi.org/10.1621/nrs.06006openalex-snapshot
E6-associated protein (E6-AP) is a dual function coactivator of steroid hormone receptors
inferredcites →https://doi.org/10.2217/epi.15.70openalex-snapshot
Epigenetic Regulation of UBE3A and Roles in Human Neurodevelopmental Disorders
inferredcites →https://doi.org/10.3389/fnins.2016.00033openalex-snapshot
Toll-Like Receptor 4 Deficiency Impairs Motor Coordination
inferredcites →https://doi.org/10.3390/ijms24010303openalex-snapshot
The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome
inferredcites →https://doi.org/10.3390/ijms241713109openalex-snapshot
Hormonal Imbalances in Prader–Willi and Schaaf–Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals

What points at this work

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inferred← citeshttps://doi.org/10.53053/qtzw7179openalex-snapshot
Aggression; Angelman syndrome; NLGN3
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