Associated Papers
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.
Magistrati M et al.
International Journal of Molecular Sciences, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Modifications of the human tRNA anticodon loop and their associations with genetic diseases.
Zhou JB et al.
Cellular and Molecular Life Sciences : Cmls, 2021
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
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Baruffini E et al.
Human Mutation, 2013
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
Ghezzi D et al.
American Journal of Human Genetics, 2012
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