Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1
A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron-sulfur cluster and supercomplex formation.
Murdock DG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
Recurrent MECR R258W causes adult-onset optic atrophy: A case report.
Jia N et al.
European Journal of Medical Genetics, 2024
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
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
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
Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities.
Gorukmez O et al.
Neuropediatrics, 2019
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
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