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Article

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

Journal of molecular neuroscience : MN - 1 Dec 2020

Paramasivam Arumugam, Meena Angamuthu K, Venkatapathi Challa, Pitceathly Robert D S, Thangaraj Kumarasamy

Abstract excerpt

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) methyltransferase NSun3, have been linked to multisystem mitochondrial disease associated with combined oxidative...

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Identifiers

PMID: 32488845
DOI: 10.1007/s12031-020-01595-8
PMCID: PMC7658056

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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