Associated Papers
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
40400026 (PubMed )
Supplement: 13073_2025_1467_MOESM1_ESM.xlsx › VC_validation_cohort
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst H et al.
Annals of Clinical and Translational Neurology, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.
Sinha A et al.
The Journal of Biological Chemistry, 2014
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Neeve VC et al.
Mitochondrion, 2013
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Tucker EJ et al.
Cell Metabolism, 2011
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