Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Epitranscriptomic systems enable post-transcriptional modifications of cellular RNA that are essential for regulating gene expression. Of the ~ 170 known RNA chemical modifications, methylation is among the most common. Loss of function mutations in NSUN3 , encoding the 5-methylcytosine (m5C) methyl...

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Veröffentlicht in:	Journal of molecular neuroscience 2020-12, Vol.70 (12), p.1962-1965
Hauptverfasser:	Paramasivam, Arumugam, Meena, Angamuthu K., Venkatapathi, Challa, Pitceathly, Robert D.S., Thangaraj, Kumarasamy
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Biomedical and Life Sciences Biomedicine Cell Biology Convulsions & seizures DNA methylation Functional analysis Gene expression Methyltransferase Mitochondria Mutation Neurochemistry Neurology Neurosciences Oxidative phosphorylation Phosphorylation Post-transcription Proteomics Ribonucleic acid RNA Seizures
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