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Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.
- Published in:
- Proteomics, 2016, v. 16, n. 7, p. 1166, doi. 10.1002/pmic.201500336
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- Publication type:
- Article
CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7B.
- Published in:
- EMBO Reports, 2022, v. 23, n. 8, p. 1, doi. 10.15252/embr.202254825
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- Publication type:
- Article
Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2013, v. 33, n. 10, p. 1605, doi. 10.1038/jcbfm.2013.116
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- Publication type:
- Article
Complex IV-deficient Surf1<sup>-/-</sup> mice initiate mitochondrial stress responses.
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- Biochemical Journal, 2014, v. 462, n. 2, p. 359, doi. 10.1042/BJ20140291
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- Publication type:
- Article
Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 5, p. 901, doi. 10.1038/mt.2014.6
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- Publication type:
- Article
AAV-mediated Liver-specific MPV17 Expression Restores mtDNA Levels and Prevents Diet-induced Liver Failure.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 1, p. 10, doi. 10.1038/mt.2013.230
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- Publication type:
- Article
Mitochondrial Neurodegeneration: Lessons from Drosophila melanogaster Models.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 378, doi. 10.3390/biom13020378
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- Publication type:
- Article
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 18, p. 10803, doi. 10.1093/nar/gkab837
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- Publication type:
- Article
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 9, p. 5230, doi. 10.1093/nar/gkab282
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- Publication type:
- Article
Tissue-specific differences in the assembly of mitochondrial Complex I are revealed by a novel ENU mutation in ECSIT.
- Published in:
- Cardiovascular Research, 2023, v. 119, n. 12, p. 2213, doi. 10.1093/cvr/cvad101
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- Publication type:
- Article
Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia.
- Published in:
- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 6, p. 3534, doi. 10.1111/jcmm.15043
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- Publication type:
- Article
Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity.
- Published in:
- FASEB Journal, 2013, v. 27, n. 4, p. 1371, doi. 10.1096/fj.12-221879
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- Publication type:
- Article
Mitochondrial Neurodegeneration.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 4, p. 637, doi. 10.3390/cells11040637
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- Publication type:
- Article
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.
- Published in:
- Cell Death & Disease, 2024, v. 15, n. 4, p. 1, doi. 10.1038/s41419-024-06622-9
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- Publication type:
- Article
Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 11, p. 1231, doi. 10.15252/emmm.201606933
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- Publication type:
- Article
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 3, p. 176, doi. 10.15252/emmm.201505894
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- Publication type:
- Article
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.
- Published in:
- EMBO Molecular Medicine, 2012, v. 4, n. 9, p. 1008, doi. 10.1002/emmm.201201433
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- Publication type:
- Article
Rapid fractionation of mitochondria from mouse liver and heart reveals in vivo metabolite compartmentation.
- Published in:
- FEBS Letters, 2023, v. 597, n. 2, p. 246, doi. 10.1002/1873-3468.14511
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- Publication type:
- Article
Lifelong reduction in complex IV induces tissue‐specific metabolic effects but does not reduce lifespan or healthspan in mice.
- Published in:
- Aging Cell, 2018, v. 17, n. 4, p. 1, doi. 10.1111/acel.12769
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- Publication type:
- Article
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
- Published in:
- Biomedicines, 2021, v. 9, n. 7, p. 833, doi. 10.3390/biomedicines9070833
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- Publication type:
- Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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- Publication type:
- Article
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22062-x
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- Publication type:
- Article
Structural basis for a complex I mutation that blocks pathological ROS production.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-20942-w
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- Publication type:
- Article
The homeostatic dynamics of feeding behaviour identify novel mechanisms of anorectic agents.
- Published in:
- PLoS Biology, 2019, v. 17, n. 12, p. 1, doi. 10.1371/journal.pbio.3000482
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- Publication type:
- Article
Kinetic and ionic properties of the human HCN2 pacemaker channel.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 439, n. 5, p. 618, doi. 10.1007/s004240050985
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- Publication type:
- Article
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1058, doi. 10.1093/hmg/ddn441
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- Publication type:
- Article
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 12, doi. 10.1093/hmg/ddn309
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- Publication type:
- Article
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
- Published in:
- Nature Medicine, 2010, v. 16, n. 8, p. 869, doi. 10.1038/nm.2188
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- Publication type:
- Article
Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
- Published in:
- 2009
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- Publication type:
- Correction notice
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
- Published in:
- Nature Medicine, 2009, v. 15, n. 2, p. 200, doi. 10.1038/nm.1907
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- Publication type:
- Article
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
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- Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
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- Publication type:
- Article
Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations.
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- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1001379
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- Publication type:
- Article
Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.88084
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- Publication type:
- Article
NAD<sup>+</sup> repletion with niacin counteracts cancer cachexia.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37595-6
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- Publication type:
- Article
Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications.
- Published in:
- Bioscience Reports, 2013, v. 33, n. 4, p. 575, doi. 10.1042/BSR20130051
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- Publication type:
- Article
Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice.
- Published in:
- 2022
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- Publication type:
- journal article
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1428, doi. 10.1093/brain/awq067
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- Publication type:
- Article
Gene therapy for mitochondrial disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 145, doi. 10.1002/jimd.12699
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- Publication type:
- Article
MtDNA-maintenance defects: syndromes and genes.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 587, doi. 10.1007/s10545-017-0027-5
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- Publication type:
- Article
Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 3, p. 451, doi. 10.1007/s10545-011-9408-3
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- Publication type:
- Article
Heteromeric HCN1-HCN4 Channels: A Comparison with Native Pacemaker Channels from the Rabbit Sinoatrial Node.
- Published in:
- Journal of Physiology, 2003, v. 549, n. 2, p. 347, doi. 10.1113/jphysiol.2002.027698
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- Publication type:
- Article
Effects of dronedarone on Acetylcholine-activated current in rabbit SAN cells.
- Published in:
- British Journal of Pharmacology, 2000, v. 130, n. 6, p. 1315, doi. 10.1038/sj.bjp.0703446
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- Publication type:
- Article
The short N-terminus is required for functional expression of the virus-encoded miniature K<sup>+</sup> channel Kcv
- Published in:
- FEBS Letters, 2002, v. 530, n. 1-3, p. 65, doi. 10.1016/S0014-5793(02)03397-5
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- Publication type:
- Article
Towards a therapy for mitochondrial disease: an update.
- Published in:
- Biochemical Society Transactions, 2018, v. 46, n. 5, p. 1247, doi. 10.1042/BST20180134
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- Publication type:
- Article
Toward a therapy for mitochondrial disease.
- Published in:
- Biochemical Society Transactions, 2016, v. 44, n. 5, p. 1483, doi. 10.1042/BST20160085
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- Publication type:
- Article
Metabolic effects of bezafibrate in mitochondrial disease.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201911589
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- Publication type:
- Article
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
- Published in:
- EMBO Molecular Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.15252/emmm.201809582
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- Publication type:
- Article
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201708799
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- Publication type:
- Article
Molecular Research on Mitochondrial Dysfunction.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6845, doi. 10.3390/ijms23126845
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- Publication type:
- Article