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2015 2
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237 results

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Page 1
METTL4-Mediated Mitochondrial DNA N6-Methyldeoxyadenosine Promoting Macrophage Inflammation and Atherosclerosis.
Zheng L, Chen X, He X, Wei H, Li X, Tan Y, Min J, Chen M, Zhang Y, Dong M, Yin Q, Xue M, Zhang L, Huo D, Jiang H, Li T, Li F, Wang X, Li X, Chen H. Zheng L, et al. Circulation. 2025 Apr;151(13):946-965. doi: 10.1161/CIRCULATIONAHA.124.069574. Epub 2024 Dec 17. Circulation. 2025. PMID: 39687989 Free PMC article.
Mechanistically, elevated METTL4 expression reduces mitochondrial ATP6 (MT-ATP6) expression by suppressing its transcription, thereby impairing the activity of mitochondrial respiration chain complex V. ...
Mechanistically, elevated METTL4 expression reduces mitochondrial ATP6 (MT-ATP6) expression by suppressing its transcri …
Optimized Mitochondrial Targeting of Proteins Encoded by Modified mRNAs Rescues Cells Harboring Mutations in mtATP6.
Chin RM, Panavas T, Brown JM, Johnson KK. Chin RM, et al. Cell Rep. 2018 Mar 13;22(11):2818-2826. doi: 10.1016/j.celrep.2018.02.059. Cell Rep. 2018. PMID: 29539412 Free article.
Taking these two factors together, we synthesized chemically modified mRNAs that encode for an optimized allotopic expression construct for mtATP6. These mRNAs were able to functionally rescue a cell line harboring the 8993T > G point mutation in the mtATP6 gene. …
Taking these two factors together, we synthesized chemically modified mRNAs that encode for an optimized allotopic expression construct for …
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. Ganetzky RD, et al. Hum Mutat. 2019 May;40(5):499-515. doi: 10.1002/humu.23723. Epub 2019 Mar 4. Hum Mutat. 2019. PMID: 30763462 Free PMC article. Review.
Mitochondrial disease caused by the m.8993T>G pathogenic variant in the CV subunit gene MT-ATP6 was among the first described human mitochondrial DNA diseases. Due to a lack of clinically available functional assays, validating the definitive pathogenicity of add …
Mitochondrial disease caused by the m.8993T>G pathogenic variant in the CV subunit gene MT-ATP6 was among the first describ …
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited variants accounted for 42% (heteroplasmy level 90% in 64%). ...Discriminating neuroimaging and/or clinical features were identified for MT …
RESULTS: Pathogenic variants were identified in 52 genes, most frequently MT-ATP6, SURF1, and PDHA1. Maternally inherited vari …
Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
Na JH, Lee YM. Na JH, et al. Acta Neurol Scand. 2022 Apr;145(4):414-422. doi: 10.1111/ane.13566. Epub 2021 Dec 7. Acta Neurol Scand. 2022. PMID: 34877647
Among mtDNA pathogenic variants, variants of the MT-ATP6 gene account for most of reported cases. In this report, we aimed to describe the clinical and genetic findings of MT-ATP6-associated LS patients diagnosed at a single tertiary institution in Kor …
Among mtDNA pathogenic variants, variants of the MT-ATP6 gene account for most of reported cases. In this report, we aimed to …
Insights into the Deep Phylogeny and Novel Divergence Time Estimation of Patellogastropoda from Complete Mitogenomes.
Feng J, Miao J, Ye Y, Li J, Xu K, Guo B, Yan X. Feng J, et al. Genes (Basel). 2022 Jul 18;13(7):1273. doi: 10.3390/genes13071273. Genes (Basel). 2022. PMID: 35886056 Free PMC article.
The ratio of Ka and Ks indicated that these Nacellidae species were suffering a purifying selection, with exception of the atp6 gene. The gene sequence is basically consistent among families, while there are great differences among Lottidae species. ...
The ratio of Ka and Ks indicated that these Nacellidae species were suffering a purifying selection, with exception of the atp6 gene. …
Precise modelling of mitochondrial diseases using optimized mitoBEs.
Zhang X, Zhang X, Ren J, Li J, Wei X, Yu Y, Yi Z, Wei W. Zhang X, et al. Nature. 2025 Mar;639(8055):735-745. doi: 10.1038/s41586-024-08469-8. Epub 2025 Jan 22. Nature. 2025. PMID: 39843744
Phenotypic evaluations led to the creation of mouse models for the mt-Atp6 T8591C and mt-Nd5 A12784G mutations, exhibiting phenotypes corresponding to the reduced heart rate seen in Leigh syndrome and the vision loss characteristic of Leber's hereditary optic neurop …
Phenotypic evaluations led to the creation of mouse models for the mt-Atp6 T8591C and mt-Nd5 A12784G mutations, exhibiting phe …
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
RESULTS: Genetic testing identified sporadic large-scale mitochondrial DNA deletions and variants in MT-TL1, MT-ATP6, MT-TK, MT-RNR1, or RRM2B. Based on retinal imaging, 3 phenotypes could be differentiated: type 1 with mild, focal pigmentary abnormalities; t …
RESULTS: Genetic testing identified sporadic large-scale mitochondrial DNA deletions and variants in MT-TL1, MT-ATP6, MT …
Mitochondrial Pathogenic Mutations and Expression Pattern of Oxidative Phosphorylation Genes in COVID-19 Patients.
Shokuhi Nia M, Kordi Tamandani D, Momeni MK, Bameri Z. Shokuhi Nia M, et al. Iran J Allergy Asthma Immunol. 2024 Jul 27;23(4):374-392. doi: 10.18502/ijaai.v23i4.16212. Iran J Allergy Asthma Immunol. 2024. PMID: 39549291 Free article.
We found 8 different mtDNA mutations in ND1, ND5, CO3, ATP6, and CYB genes, which were predicted to alter amino acids and decrease protein stability. ...
We found 8 different mtDNA mutations in ND1, ND5, CO3, ATP6, and CYB genes, which were predicted to alter amino acids and decrease pr …
237 results