Associated Papers
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2025
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.
de Muijnck C et al.
Genes, 2024
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.
Van Haute L et al.
Nature Communications, 2016
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