Varaico: Literature-Extracted Genetic Variants

Gene:ADARB1
Variant:p.E488Q
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ADARB1

NM_001112.4:p.E488Q

Associated Papers

Structural and mechanistic basis of ADAR1-mediated RNA editing and immune regulation.

Deng X et al.

Cell Insight, 2026

Target-stabilized base editors enable robust high-fidelity RNA editing.

Liu T et al.

Nature Communications, 2026

Engineered Allosteric RNA Editors Enable Compact, Stimulus-Responsive Post-Transcriptional Circuits.

Marzilli AM et al.

Biorxiv : the Preprint Server for Biology, 2026

Conversion of IscB and Cas9 into RNA-guided RNA editors.

Xu C et al.

Cell, 2025

Exploring the complexity of MECP2 function in Rett syndrome.

Liu Y et al.

Nature Reviews. Neuroscience, 2025

Phylogenetic and structural analysis of Hydra ADAR.

Wilcox XE et al.

Archives of Biochemistry and Biophysics, 2025

A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons.

Carter JL et al.

Stem Cells (dayton, Ohio), 2025

Structural perspectives on adenosine to inosine RNA editing by ADARs.

Fisher AJ et al.

Molecular Therapy. Nucleic Acids, 2024

Nuclear aggregates of NONO/SFPQ and A-to-I-edited RNA in Parkinson's disease and dementia with Lewy bodies.

Belur NR et al.

Neuron, 2024

Library Screening Reveals Sequence Motifs That Enable ADAR2 Editing at Recalcitrant Sites.

Jacobsen CS et al.

Acs Chemical Biology, 2023

Site-Specific RNA Editing of Stop Mutations in the CFTR mRNA of Human Bronchial Cultured Cells.

Chiavetta RF et al.

International Journal of Molecular Sciences, 2023

Site-directed A → I RNA editing as a therapeutic tool: moving beyond genetic mutations.

Diaz Quiroz JF et al.

Rna (new York, N.y.), 2023

Autocatalytic base editing for RNA-responsive translational control.

Gayet RV et al.

Nature Communications, 2023

ADAR activation by inducing a syn conformation at guanosine adjacent to an editing site.

Doherty EE et al.

Nucleic Acids Research, 2022

Multifaceted role of RNA editing in promoting loss-of-function of PODXL in cancer.

Fu T et al.

Iscience, 2022

Rescue of autosomal dominant hearing loss by in vivo delivery of mini dCas13X-derived RNA base editor.

Xiao Q et al.

Science Translational Medicine, 2022

The Translational Regulation in mTOR Pathway.

Yang M et al.

Biomolecules, 2022

Comprehensive interrogation of the ADAR2 deaminase domain for engineering enhanced RNA editing activity and specificity.

Katrekar D et al.

Elife, 2022

MultiEditR: The first tool for the detection and quantification of RNA editing from Sanger sequencing demonstrates comparable fidelity to RNA-seq.

Kluesner MG et al.

Molecular Therapy. Nucleic Acids, 2021

Rational Design of RNA Editing Guide Strands: Cytidine Analogs at the Orphan Position.

Doherty EE et al.

Journal of the American Chemical Society, 2021

Regulation of RNA editing by intracellular acidification.

Malik TN et al.

Nucleic Acids Research, 2021

Genome-Editing Strategies for Treating Human Retinal Degenerations.

Quinn J et al.

Human Gene Therapy, 2021

Base editing: advances and therapeutic opportunities.

Porto EM et al.

Nature Reviews. Drug Discovery, 2020

Asymmetric dimerization of adenosine deaminase acting on RNA facilitates substrate recognition.

Thuy-Boun AS et al.

Nucleic Acids Research, 2020

In Vivo Repair of a Protein Underlying a Neurological Disorder by Programmable RNA Editing.

Sinnamon JR et al.

Cell Reports, 2020

Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons.

Melfi R et al.

International Journal of Molecular Sciences, 2020

Suppression of Nonsense Mutations by New Emerging Technologies.

Morais P et al.

International Journal of Molecular Sciences, 2020

RNA editing as a therapeutic approach for retinal gene therapy requiring long coding sequences.

Fry LE et al.

International Journal of Molecular Sciences, 2020

High-Resolution Structure of Cas13b and Biochemical Characterization of RNA Targeting and Cleavage.

Slaymaker IM et al.

Cell Reports, 2019

A Bump-Hole Approach for Directed RNA Editing.

Monteleone LR et al.

Cell Chemical Biology, 2019

Site-directed RNA repair of endogenous Mecp2 RNA in neurons.

Sinnamon JR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

How do ADARs bind RNA? New protein-RNA structures illuminate substrate recognition by the RNA editing ADARs.

Thomas JM et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2017

Probing RNA recognition by human ADAR2 using a high-throughput mutagenesis method.

Wang Y et al.

Nucleic Acids Research, 2016

Recognition of duplex RNA by the deaminase domain of the RNA editing enzyme ADAR2.

Phelps KJ et al.

Nucleic Acids Research, 2015

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