MTO1 Antibody

1. Two novel variants (c.[253G > A];[938G > A]) in the MTO1 gene were identified in a child with cardiomyopathy with early-onset brain disease. PMID: 29440775
2. MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. PMID: 29331171
3. Defects in the mitochondrial tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. PMID: 29348686
4. Whole-exome sequencing (WES) indicated a double homozygous mutation in the mitochondrial tRNA translation optimization 1 protein (MTO1) gene (p.R504C and p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. PMID: 27256614
5. Optic neuropathy, cardiomyopathy, and cognitive disability was found in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. PMID: 26061759
6. MTO1 mediates tRNA modification and controls mitochondrial translation rate in a highly tissue-specific manner associated with tissue-specific oxidative phosphorylation defects. PMID: 25552653
7. Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids. PMID: 25149473
8. Nuclear-encoded mitochondrial MTO1 and MRPL41 are regulated in an opposite epigenetic mode based on estrogen receptor status in breast cancer. PMID: 24160266
9. MTO1 mutations are commonly associated with a presentation of hypertrophic cardiomyopathy, lactic acidosis, and MRC deficiency. PMID: 23929671
10. MTO1 mutations have roles in hypertrophic cardiomyopathy and lactic acidosis PMID: 22608499
11. identification of full-length cDNA and elucidation of genomic organization of the human MTO1 homolog PMID: 12011058
12. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. PMID: 15542390
13. proposed linkage in chromosome 8 and the association with TRMU and MTO1 genes were studied in A1555G deafness PMID: 18391568

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HGNC: 19261

OMIM: 614667

KEGG: hsa:25821

UniGene: Hs.347614