Detalhe da pesquisa
1.
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Hum Mol Genet
; 31(12): 2049-2062, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35024855
2.
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.
PLoS Genet
; 15(7): e1008240, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365523
3.
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Hum Mutat
; 42(4): 378-384, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502047
4.
TEFM regulates both transcription elongation and RNA processing in mitochondria.
EMBO Rep
; 20(6)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036713
5.
C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.
Nucleic Acids Res
; 47(17): 9386-9399, 2019 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31396629
6.
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Hum Mol Genet
; 26(13): 2515-2525, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28430993
7.
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing.
Nat Commun
; 13(1): 5750, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180430
8.
Quantitative Proteomics in Drosophila with Holidic Stable-Isotope Labeling of Amino Acids in Fruit Flies (SILAF).
Methods Mol Biol
; 2192: 75-87, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33230767
9.
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
Front Neurol
; 12: 652590, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33841319
10.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Neurol Genet
; 7(2): e566, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732874
11.
FBXL4 deficiency increases mitochondrial removal by autophagy.
EMBO Mol Med
; 12(7): e11659, 2020 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32525278
12.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Stem Cell Reports
; 12(4): 696-711, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827875