Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C et al.
Journal of Medical Genetics, 2023
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.
Dutta D et al.
Nature Metabolism, 2023
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Liu Z et al.
Mitochondrion, 2021
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer G et al.
American Journal of Human Genetics, 2016
Select a paper to view details