Detalhe da pesquisa
1.
A proximity-dependent biotinylation map of a human cell.
Nature
; 595(7865): 120-124, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34079125
2.
BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.
Nucleic Acids Res
; 51(21): 11797-11812, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823603
3.
Author Correction: A proximity-dependent biotinylation map of a human cell.
Nature
; 602(7895): E16, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017685
4.
Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation.
Nucleic Acids Res
; 48(14): 7924-7943, 2020 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652011
5.
A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.
EMBO Rep
; 18(1): 28-38, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974379
6.
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.
Hum Mol Genet
; 24(2): 480-91, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25214534
7.
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Hum Mol Genet
; 24(14): 4103-13, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911677
8.
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Hum Mol Genet
; 24(10): 2841-7, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652405
9.
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Hum Genet
; 134(9): 981-91, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26099313
10.
Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.
Am J Hum Genet
; 90(1): 142-51, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243966
11.
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Am J Hum Genet
; 91(4): 737-43, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022098
12.
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Nat Genet
; 38(1): 93-100, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16311595
13.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.
Life Sci Alliance
; 7(1)2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37931956
14.
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Hum Mutat
; 34(10): 1366-70, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23878101
15.
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
Hum Mol Genet
; 20(23): 4634-43, 2011 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21890497
16.
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Am J Hum Genet
; 87(1): 115-22, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598281
17.
Identification of Proximity Interactors of Mammalian Nucleoid Proteins by BioID.
Methods Mol Biol
; 2615: 153-172, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807791
18.
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
Life Sci Alliance
; 6(6)2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977595
19.
ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly.
Cell Rep
; 37(12): 110139, 2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34936866
20.
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.
Hum Mol Genet
; 17(23): 3697-707, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18753147