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Mitochondrial tRNA<sup>Glu</sup> 14693A > G Mutation, an "Enhancer" to the Phenotypic Expression of Leber's Hereditary Optic Neuropathy.
- Published in:
- Advanced Science, 2024, v. 11, n. 41, p. 1, doi. 10.1002/advs.202401856
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- Publication type:
- Article
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 134, doi. 10.1038/jhg.2013.134
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- Article
Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation.
- Published in:
- Journal of Biomedical Science, 2023, v. 30, n. 1, p. 1, doi. 10.1186/s12929-023-00951-1
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- Article
Mitochondrial tRNA mutations in Chinese children with tic disorders.
- Published in:
- Bioscience Reports, 2020, v. 40, n. 12, p. 1, doi. 10.1042/BSR20201856
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- Publication type:
- Article
Reply to comments on: “obesity associated with a novel mitochondrial tRNA<sup>Cys</sup> 5802A>G mutation in a Chinese family”.
- Published in:
- Bioscience Reports, 2020, v. 40, n. 2, p. 1, doi. 10.1042/BSR20200131
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- Article
Obesity associated with a novel mitochondrial tRNA<sup>Cys</sup> 5802A>G mutation in a Chinese family.
- Published in:
- Bioscience Reports, 2020, v. 40, n. 1, p. 1, doi. 10.1042/BSR20192153
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- Publication type:
- Article
Autoinducer-2 promotes the colonization of Lactobacillus rhamnosus GG to improve the intestinal barrier function in a neonatal mouse model of antibiotic-induced intestinal dysbiosis.
- Published in:
- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-04991-5
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- Article
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.
- Published in:
- 2020
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- Publication type:
- journal article
Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.
- Published in:
- Biomedical Reports, 2018, v. 8, n. 1, p. 51, doi. 10.3892/br.2017.1014
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- Article
Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1539, doi. 10.1093/hmg/ddad001
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- Publication type:
- Article
Leber's hereditary optic neuropathy is potentially associated with a novel m.5587T>C mutation in two pedigrees.
- Published in:
- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 8997, doi. 10.3892/mmr.2017.7734
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- Publication type:
- Article
Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 2, p. 231, doi. 10.1093/hmg/ddac190
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- Publication type:
- Article
Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3299, doi. 10.1093/hmg/ddac109
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- Publication type:
- Article
Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 9, p. 1515, doi. 10.1093/hmg/ddy450
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- Article
Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T >C mutation altered the assembly and function of complex I, apoptosis and mitophagy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1999, doi. 10.1093/hmg/ddy107
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- Article
Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber' s hereditary optic neuropathy-associated mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3613, doi. 10.1093/hmg/ddw199
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- Publication type:
- Article
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 584, doi. 10.1093/hmg/ddv498
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- Publication type:
- Article
Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Ψ55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. 16, p. 9368, doi. 10.1093/nar/gkac698
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- Publication type:
- Article