Detalhe da pesquisa
1.
Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.
Hum Mol Genet
; 29(19): 3296-3311, 2020 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32975579
2.
Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.
Hum Mol Genet
; 28(2): 209-219, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260394
3.
Inefficient thermogenic mitochondrial respiration due to futile proton leak in a mouse model of fragile X syndrome.
FASEB J
; 34(6): 7404-7426, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307754
4.
A metabolic perspective on CSF-mediated neurodegeneration in multiple sclerosis.
Brain
; 142(9): 2756-2774, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31305892
5.
Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure.
Thorax
; 74(11): 1099-1101, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534031
6.
Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK.
Biochim Biophys Acta Mol Basis Dis
; 1864(5 Pt A): 1896-1903, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526819
7.
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Hum Mol Genet
; 24(16): 4516-29, 2015 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25976310
8.
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Hum Mol Genet
; 24(3): 714-26, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274776
9.
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Am J Hum Genet
; 91(4): 729-36, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022099
10.
Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.
FASEB J
; 27(2): 612-21, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23150520
11.
4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease.
Cell Rep
; : 114148, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697100
12.
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.
Biochim Biophys Acta
; 1820(5): 625-31, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22274133
13.
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
Am J Hum Genet
; 84(5): 558-66, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19375058
14.
Mutant COQ2 in multiple-system atrophy.
N Engl J Med
; 371(1): 81-2, 2014 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24988570
15.
Mechanisms and Therapeutic Effects of Benzoquinone Ring Analogs in Primary CoQ Deficiencies.
Antioxidants (Basel)
; 11(4)2022 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35453349
16.
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
Am J Hum Genet
; 82(1): 208-13, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18179901
17.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Am J Hum Genet
; 82(3): 661-72, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18319074
18.
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
FASEB J
; 24(10): 3733-43, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20495179
19.
Senataxin mutations and amyotrophic lateral sclerosis.
Amyotroph Lateral Scler
; 12(3): 223-7, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21190393
20.
Abnormalities of hydrogen sulfide and glutathione pathways in mitochondrial dysfunction.
J Adv Res
; 27: 79-84, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33318868