Summary:

NameTemporal Lobe Epilepsy (C:U)
DescriptionIncreased C-to-U RNA editing mediated by APOBEC1 leads to neuronal gain-of-function through presynaptic activity of RNA-edited GlyRs, resulting in facilitation of neurotransmitter release
Related RNA reactionC:U
Found in RNAmRNA
Modified TranscriptGLYR
Mapping Technology
Quantification techniquesRT-PCR

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 Homo sapiens
 

Publications:

ID Title Authors Journal Details PubMed Id DOI
1121 A Novel RNA Editing Sensor Tool and a Specific Agonist Determine Neuronal Protein Expression of RNA-Edited Glycine Receptors and Identify a Genomic APOBEC1 Dimorphism as a New Genetic Risk Factor of Epilepsy. Svenja Kankowski Front Mol Neurosci [details] 29375302 10.3389/fnmol.2017.00439

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