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Mitochondrial ADP/ATP exchange inhibition: a novel off-target mechanism underlying ibipinabant-induced myotoxicity.
- Published in:
- Scientific Reports, 2015, p. 14533, doi. 10.1038/srep14533
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- Article
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
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- Scientific Reports, 2015, p. 8035, doi. 10.1038/srep08035
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- Publication type:
- Article
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD<sup>+</sup>.
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- Cell Death & Disease, 2018, v. 9, n. 11, p. 1, doi. 10.1038/s41419-018-1179-4
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- Article
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
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- Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473
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- Article
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214
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- Article
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 270, doi. 10.1038/ejhg.2010.204
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- Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
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- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
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- Article
The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.
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- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735
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- Article
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 534, doi. 10.1038/ng2013
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- Article
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
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- Metabolomics, 2021, v. 17, n. 1, p. 1, doi. 10.1007/s11306-020-01769-w
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- Article
The Redox Modulating Sonlicromanol Active Metabolite KH176m and the Antioxidant MPG Protect Against Short-Duration Cardiac Ischemia-Reperfusion Injury.
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- Cardiovascular Drugs & Therapy, 2021, v. 35, n. 4, p. 745, doi. 10.1007/s10557-021-07189-9
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- Article
Metabolic impact of genetic and chemical ADP/ATP carrier inhibition in renal proximal tubule epithelial cells.
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- Archives of Toxicology, 2023, v. 97, n. 7, p. 1927, doi. 10.1007/s00204-023-03510-7
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- Article
Photo-Induction and Automated Quantification of Reversible Mitochondrial Permeability Transition Pore Opening in Primary Mouse Myotubes.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0114090
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- Article
Analysis of 953 Human Proteins from a Mitochondrial HEK293 Fraction by Complexome Profiling.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068340
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- Article
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex- I deficiency.
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- Proteomics, 2012, v. 12, n. 9, p. 1349, doi. 10.1002/pmic.201100326
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- Article
Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.
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- 2017
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- journal article
Human mitochondrial complex I assembly is mediated by NDUFAF1.
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- FEBS Journal, 2005, v. 272, n. 20, p. 5317, doi. 10.1111/j.1742-4658.2005.04928.x
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- Article
Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1130, doi. 10.1002/jimd.12546
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- Article
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
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- 2007
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- Publication type:
- journal article
Nuclear genes and oxidative phosphorylation disorders: a review.
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- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S227, doi. 10.1007/PL00014408
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- Article
Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
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- Human Mutation, 1998, v. 11, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C
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- Article
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00245
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- Article
Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.
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- Clinical Kidney Journal, 2019, v. 12, n. 6, p. 840, doi. 10.1093/ckj/sfz020
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- Article
Reconstructing the evolution of the mitochondrial ribosomal proteome.
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- Nucleic Acids Research, 2007, v. 35, n. 14, p. 4686, doi. 10.1093/nar/gkm441
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- Article
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 136, doi. 10.1093/brain/awn296
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- Article
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
- Published in:
- 2021
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- Publication type:
- journal article
High-Throughput Assay to Measure Oxygen Consumption in Digitonin-Permeabilized Cells of Patients with Mitochondrial Disorders.
- Published in:
- Clinical Chemistry, 2010, v. 56, n. 3, p. 424, doi. 10.1373/clinchem.2009.131441
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- Article
Correction to: The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency.
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- 2021
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- Correction Notice
The antioxidant Trolox restores mitochondrial membrane potential and Ca<sup>2+</sup>-stimulated ATP production in human complex I deficiency.
- Published in:
- Journal of Molecular Medicine, 2009, v. 87, n. 5, p. 515, doi. 10.1007/s00109-009-0452-5
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- Publication type:
- Article
Live-Imaging Readouts and Cell Models for Phenotypic Profiling of Mitochondrial Function.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00131
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- Publication type:
- Article
Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II.
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- Clinical Genetics, 1996, v. 49, n. 6, p. 325, doi. 10.1111/j.1399-0004.1996.tb03801.x
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- Article
Psychological functioning in children suspected for mitochondrial disease: the need for care.
- Published in:
- 2020
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- Publication type:
- journal article
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts.
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- Annals of Neurology, 2008, v. 64, n. 5, p. 555, doi. 10.1002/ana.21492
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- Article
Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.
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- Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328
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- Article
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
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- 2007
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- Publication type:
- journal article
X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
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- Annals of Neurology, 2007, v. 61, n. 1, p. 73
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- Publication type:
- Article
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
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- Annals of Neurology, 2004, v. 56, n. 4, p. 560, doi. 10.1002/ana.20229
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- Article
Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.
- Published in:
- 2002
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- Publication type:
- journal article
Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy.
- Published in:
- Annals of Neurology, 2000, v. 47, n. 4, p. 552, doi. 10.1002/1531-8249(200004)47:4<552::AID-ANA28>3.0.CO;2-0
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- Article
Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.523
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- Article
Sequence Analysis of the Structural Nuclear Encoded Subunits and Assembly Genes of Cytochrome c Oxidase in a Cohort of 10 Isolated Complex IV--Deficient Patients Revealed Five Mutations.
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- Journal of Child Neurology, 2006, v. 21, n. 6, p. 508, doi. 10.1177/08830738060210062501
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- Publication type:
- Article