Detalhe da pesquisa
1.
Genetic Screen for Cell Fitness in High or Low Oxygen Highlights Mitochondrial and Lipid Metabolism.
Cell
; 181(3): 716-727.e11, 2020 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32259488
2.
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis.
Cell
; 177(6): 1507-1521.e16, 2019 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031004
3.
Expansion of biological pathways based on evolutionary inference.
Cell
; 158(1): 213-25, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995987
4.
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Nature
; 620(7975): 839-848, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37587338
5.
Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.
Mol Cell
; 81(9): 1905-1919.e12, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852893
6.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet
; 32(15): 2441-2454, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133451
7.
Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Genome Res
; 32(3): 569-582, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074858
8.
A mitochondrial protein compendium elucidates complex I disease biology.
Cell
; 134(1): 112-23, 2008 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-18614015
9.
MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.
Nucleic Acids Res
; 49(D1): D1541-D1547, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33174596
10.
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.
Proc Natl Acad Sci U S A
; 115(27): E6283-E6290, 2018 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915083
11.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
12.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Am J Hum Genet
; 101(4): 525-538, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942965
13.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Hum Mutat
; 40(7): 893-898, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30981218
14.
Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism.
J Biol Chem
; 293(20): 7508-7516, 2018 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514978
15.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Hum Mol Genet
; 26(21): 4257-4266, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973171
16.
Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast.
Mol Cell Proteomics
; 16(4): 512-523, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28122942
17.
CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets.
PLoS Comput Biol
; 13(7): e1005653, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28719601
18.
MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.
Nucleic Acids Res
; 44(D1): D1251-7, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26450961
19.
CLYBL is a polymorphic human enzyme with malate synthase and ß-methylmalate synthase activity.
Hum Mol Genet
; 23(9): 2313-23, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334609
20.
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Am J Hum Genet
; 93(5): 906-14, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119684