Associated Papers
Mitochondrial translation requires folate-dependent tRNA methylation.
Morscher RJ et al.
Nature, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ et al.
Molecular Genetics and Metabolism, 2018
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
Martín MÁ et al.
Clinical Genetics, 2017
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.
Tischner C et al.
Human Molecular Genetics, 2015
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