Detalhe da pesquisa
1.
Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness.
Cell
; 148(4): 716-26, 2012 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22341444
2.
Emerging functions of mitochondria-encoded noncoding RNAs.
Trends Genet
; 39(2): 125-139, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137834
3.
Deafness-associated tRNAPhe mutation impaired mitochondrial and cellular integrity.
J Biol Chem
; 300(5): 107235, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552739
4.
Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber's hereditary optic neuropathy.
Hum Mol Genet
; 32(2): 231-243, 2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947995
5.
Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
Hum Mol Genet
; 32(9): 1539-1551, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36611011
6.
Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.
Hum Mol Genet
; 31(18): 3068-3082, 2022 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467742
7.
Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
Hum Mol Genet
; 31(19): 3299-3312, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567411
8.
A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism.
Nucleic Acids Res
; 50(16): 9453-9469, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36039763
9.
Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Ψ55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro.
Nucleic Acids Res
; 50(16): 9368-9381, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018806
10.
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations.
J Biomed Sci
; 30(1): 82, 2023 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37737178
11.
Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation.
J Biomed Sci
; 30(1): 63, 2023 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37537557
12.
FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism.
Nucleic Acids Res
; 49(22): 13108-13121, 2021 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34878141
13.
Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency.
Nucleic Acids Res
; 49(8): 4689-4704, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33836087
14.
A deafness-associated tRNA mutation caused pleiotropic effects on the m1G37 modification, processing, stability and aminoacylation of tRNAIle and mitochondrial translation.
Nucleic Acids Res
; 49(2): 1075-1093, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398350
15.
Tissue-specific expression atlas of murine mitochondrial tRNAs.
J Biol Chem
; 297(2): 100960, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265302
16.
An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function.
J Biol Chem
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Artigo
em Inglês
| MEDLINE | ID: mdl-33610547
17.
Mechanistic insights into mitochondrial tRNAAla 3'-end metabolism deficiency.
J Biol Chem
; 297(1): 100816, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34023389
18.
Asymmetrical effects of deafness-associated mitochondrial DNA 7516delA mutation on the processing of RNAs in the H-strand and L-strand polycistronic transcripts.
Nucleic Acids Res
; 48(19): 11113-11129, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045734
19.
Investigating the Broad Matrix-Gate Network in the Mitochondrial ADP/ATP Carrier through Molecular Dynamics Simulations.
Molecules
; 27(3)2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164338
20.
Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.
J Biol Chem
; 295(38): 13224-13238, 2020 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32723871