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CIA30 complex I assembly factor: a candidate for human complex I deficiency?
- Published in:
- Human Genetics, 2002, v. 110, n. 3, p. 264, doi. 10.1007/s00439-001-0673-3
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- Publication type:
- Article
Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.
- Published in:
- Human Genetics, 2000, v. 106, n. 4, p. 385, doi. 10.1007/s004390000278
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- Publication type:
- Article
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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- Publication type:
- Article
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.
- Published in:
- 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>.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 11, p. 1, doi. 10.1038/s41419-018-1179-4
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- Publication type:
- Article
Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cells.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 6, p. 1, doi. 10.1038/s41419-018-0696-5
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- Publication type:
- Article
Fear of disease progression in carriers of the m.3243A > G mutation.
- Published in:
- 2018
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- Publication type:
- journal article
Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.
- Published in:
- 2017
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- Publication type:
- journal article
KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.
- Published in:
- 2017
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- Publication type:
- journal article
Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1883-8
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- Publication type:
- Article
Author’s reply to: anesthesia care for muscle biopsy in children with myopathies by Dr Ferrari Fabio.
- Published in:
- 2009
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- Publication type:
- Letter
Anesthesia-related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defects.
- Published in:
- Pediatric Anesthesia, 2007, v. 17, n. 1, p. 16, doi. 10.1111/j.1460-9592.2006.02043.x
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- Publication type:
- Article
THE GENETICS AND PATHOLOGY OF OXIDATIVE PHOSPHORYLATION.
- Published in:
- Nature Reviews Genetics, 2001, v. 2, n. 5, p. 342, doi. 10.1038/35072063
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- Publication type:
- 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.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473
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- Publication type:
- Article
Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 1, p. 115, doi. 10.1093/hmg/ddr446
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- Publication type:
- Article
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276
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- Publication type:
- Article
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 4001, doi. 10.1093/hmg/ddn303
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- Publication type:
- Article
Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 7, p. 986, doi. 10.1093/hmg/ddm371
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- Publication type:
- Article
Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2461, doi. 10.1093/hmg/ddh262
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- Publication type:
- Article
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 6, p. 659, doi. 10.1093/hmg/ddh071
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- Publication type:
- Article
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 202, doi. 10.1038/ejhg.2014.80
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- Publication type:
- Article
Sonlicromanol's active metabolite KH176m normalizes prostate cancer stem cell mPGES-1 overexpression and inhibits cancer spheroid growth.
- Published in:
- PLoS ONE, 2021, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0254315
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- Publication type:
- Article
Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation.
- Published in:
- Acta Neuropathologica, 2005, v. 110, n. 2, p. 199, doi. 10.1007/s00401-005-1036-2
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- Publication type:
- Article
The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.
- Published in:
- BioEssays, 2001, v. 23, n. 6, p. 518, doi. 10.1002/bies.1071
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- Publication type:
- Article
Mitochondrial disorders in children: toward development of small-molecule treatment strategies.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 311, doi. 10.15252/emmm.201506131
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- Publication type:
- Article
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 394, doi. 10.1038/ejhg.2010.214
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- Publication type:
- Article
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 270, doi. 10.1038/ejhg.2010.204
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- Publication type:
- Article
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 275, doi. 10.1038/ejhg.2010.208
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- Publication type:
- Article
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171
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- Publication type:
- Article
Functional consequences of mitochondrial tRNA<sup>Trp</sup> and tRNA<sup>Arg</sup> mutations causing combined OXPHOS defects.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 324, doi. 10.1038/ejhg.2009.169
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- Publication type:
- 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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- Publication type:
- Article
Defective protein glycosylation in patients with cutis laxa syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361
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- Publication type:
- 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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- Publication type:
- Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
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- Publication type:
- Article
Quantitative Glucose and ATP Sensing in Mammalian Cells.
- Published in:
- Pharmaceutical Research, 2011, v. 28, n. 11, p. 2745, doi. 10.1007/s11095-011-0492-8
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- Publication type:
- Article
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
- Published in:
- Metabolomics, 2021, v. 17, n. 1, p. 1, doi. 10.1007/s11306-020-01769-w
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- Publication type:
- Article
The Redox Modulating Sonlicromanol Active Metabolite KH176m and the Antioxidant MPG Protect Against Short-Duration Cardiac Ischemia-Reperfusion Injury.
- Published in:
- Cardiovascular Drugs & Therapy, 2021, v. 35, n. 4, p. 745, doi. 10.1007/s10557-021-07189-9
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- Publication type:
- Article
Development of subdural effusions in association with pyruvate dehydrogenase deficiency.
- Published in:
- 2005
- By:
- Publication type:
- case study
Metabolic impact of genetic and chemical ADP/ATP carrier inhibition in renal proximal tubule epithelial cells.
- Published in:
- Archives of Toxicology, 2023, v. 97, n. 7, p. 1927, doi. 10.1007/s00204-023-03510-7
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- Publication type:
- Article
Cellular and animal models for mitochondrial complex I deficiency: A focus on the NDUFS4 subunit.
- Published in:
- IUBMB Life, 2013, v. 65, n. 3, p. 202, doi. 10.1002/iub.1127
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- Publication type:
- Article
Photo-Induction and Automated Quantification of Reversible Mitochondrial Permeability Transition Pore Opening in Primary Mouse Myotubes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0114090
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- Publication type:
- Article
Analysis of 953 Human Proteins from a Mitochondrial HEK293 Fraction by Complexome Profiling.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068340
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- Publication type:
- Article
Enhanced number and activity of mitochondria in multiple sclerosis lesions.
- Published in:
- Journal of Pathology, 2009, v. 219, n. 2, p. 193, doi. 10.1002/path.2582
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- Publication type:
- Article
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
- Published in:
- Nature Genetics, 1999, v. 21, n. 3, p. 260, doi. 10.1038/6772
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- Publication type:
- Article
Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex- I deficiency.
- Published in:
- Proteomics, 2012, v. 12, n. 9, p. 1349, doi. 10.1002/pmic.201100326
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- Publication type:
- Article
LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes.
- Published in:
- Proteomics, 2009, v. 9, n. 17, p. 4221, doi. 10.1002/pmic.200900157
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- Publication type:
- Article
Quantification of gait in mitochondrial m.3243A > G patients: a validation study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome.
- Published in:
- EMBO Journal, 2010, v. 29, n. 6, p. 1116, doi. 10.1038/emboj.2010.14
- By:
- Publication type:
- Article
Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.
- Published in:
- 2017
- By:
- Publication type:
- journal article