Detalhe da pesquisa
1.
MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation.
Cell
; 151(7): 1528-41, 2012 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23260140
2.
A proximity-dependent biotinylation map of a human cell.
Nature
; 595(7865): 120-124, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34079125
3.
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
4.
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
Hum Mol Genet
; 30(8): 687-705, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749723
5.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
6.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Brain
; 145(4): 1519-1534, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34788392
7.
Author Correction: A proximity-dependent biotinylation map of a human cell.
Nature
; 602(7895): E16, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35017685
8.
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
9.
Mitochondrial molecular genetics and human disease.
Hum Mol Genet
; 33(R1): R1-R2, 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38779767
10.
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.
Hum Mol Genet
; 27(1): 178-189, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121267
11.
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion.
Hum Mol Genet
; 26(16): 3186-3201, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575497
12.
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
13.
Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype.
Neurogenetics
; 18(2): 97-103, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058511
14.
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
15.
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
16.
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
17.
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Hum Mol Genet
; 24(3): 727-39, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25260547
18.
Biomedicine: Replacing the cell's power plants.
Nature
; 540(7632): 210-211, 2016 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27919076
19.
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Hum Mutat
; 37(9): 976-82, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27349184
20.
The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.
Hum Mol Genet
; 23(19): 5159-70, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24838397