Detalhe da pesquisa
1.
Mitochondrial MDM2 Regulates Respiratory Complex I Activity Independently of p53.
Mol Cell
; 69(4): 594-609.e8, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29452639
2.
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
FASEB J
; 33(6): 7168-7179, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848931
3.
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.
J Inherit Metab Dis
; 43(3): 459-466, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31652339
4.
Use of H2O2 to Cause Oxidative Stress, the Catalase Issue.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266350
5.
Drug-Induced Alterations of Mitochondrial DNA Homeostasis in Steatotic and Nonsteatotic HepaRG Cells.
J Pharmacol Exp Ther
; 365(3): 711-726, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29669730
6.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
7.
Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization.
Int J Mol Sci
; 19(3)2018 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518970
8.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
J Inherit Metab Dis
; 40(3): 403-414, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28303425
9.
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
J Hepatol
; 65(2): 377-85, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151179
10.
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Am J Hum Genet
; 93(2): 384-9, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23910460
11.
HIF-1α induction, proliferation and glycolysis of Theileria-infected leukocytes.
Cell Microbiol
; 17(4): 467-72, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25620534
12.
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.
Eur Heart J
; 36(42): 2886-93, 2015 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224072
13.
Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance.
Biochim Biophys Acta
; 1843(9): 2012-26, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24878071
14.
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
15.
MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.
Gastroenterology
; 156(5): 1525-1527.e4, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582904
16.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Hepatology
; 70(3): 1066-1070, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30912852
17.
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
J Neurol Neurosurg Psychiatry
; 86(6): 646-54, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118206
18.
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome.
Nucleic Acids Res
; 41(1): 418-33, 2013 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23087375
19.
Oxidation of hydrogen sulfide by human liver mitochondria.
Nitric Oxide
; 41: 105-12, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24928562
20.
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.
Biochim Biophys Acta
; 1822(10): 1570-80, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22800932