Detalhe da pesquisa
1.
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.
Mol Cell
; 84(5): 981-989.e7, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38295803
2.
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.
Hum Mol Genet
; 26(6): 1087-1103, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087734
3.
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants.
Brain
; 146(10): 3958-3959, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671546
4.
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Hum Mutat
; 39(3): 406-414, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194833
5.
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.
Biochim Biophys Acta Bioenerg
; 1859(4): 244-252, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29355485
6.
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Hum Mol Genet
; 25(19): 4256-4265, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27493029
7.
Coenzyme Q biosynthesis in health and disease.
Biochim Biophys Acta
; 1857(8): 1079-1085, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060254
8.
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.
Biochim Biophys Acta
; 1841(11): 1628-38, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25152161
9.
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
J Inherit Metab Dis
; 38(1): 145-56, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25091424
10.
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.
Eur J Hum Genet
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38486025
11.
Retinoic acid receptor activation reprograms senescence response and enhances anti-tumor activity of natural killer cells.
Cancer Cell
; 42(4): 646-661.e9, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428412
12.
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Hum Mutat
; 34(1): 229-36, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23076989
13.
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
J Med Genet
; 49(3): 187-91, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22368301
14.
OPA1 drives macrophage metabolism and functional commitment via p65 signaling.
Cell Death Differ
; 30(3): 742-752, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307526
15.
COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells.
bioRxiv
; 2023 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38014142
16.
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.
Free Radic Biol Med
; 166: 277-286, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33667628
17.
Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
Biochim Biophys Acta Proteins Proteom
; 1869(1): 140555, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068755
18.
Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.
Front Mol Biosci
; 8: 695205, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34395527
19.
Cholesterol Metabolic Reprogramming in Cancer and Its Pharmacological Modulation as Therapeutic Strategy.
Front Oncol
; 11: 682911, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34109128
20.
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.
Cancers (Basel)
; 13(5)2021 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673681