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Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?
- Published in:
- Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1082953
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- Publication type:
- Article
Structural analysis of mitochondrial rRNA gene variants identified in patients with deafness.
- Published in:
- Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1163496
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- Publication type:
- Article
A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson's Disease.
- Published in:
- Molecular Neurobiology, 2023, v. 60, n. 2, p. 749, doi. 10.1007/s12035-022-03107-8
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- Publication type:
- Article
Mitochondrial DNA population variation is not associated with Alzheimer's in the Japanese population: A consistent finding across global populations.
- Published in:
- PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0276169
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- Publication type:
- Article
Mitochondrial DNA variation in Parkinson's disease: Analysis of "out-of-place" population variants as a risk factor.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.921412
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- Publication type:
- Article
Impact of transforming growth factor beta 1 on normal and thyroid cancer side population cells.
- Published in:
- Endocrine (1355008X), 2022, v. 76, n. 2, p. 359, doi. 10.1007/s12020-022-02990-4
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- Publication type:
- Article
A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98360-7
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- Publication type:
- Article
Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells.
- Published in:
- Carcinogenesis, 2020, v. 41, n. 12, p. 1735, doi. 10.1093/carcin/bgaa032
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- Publication type:
- Article
Substrate utilisation of cultured skeletal muscle cells in patients with CFS.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75406-w
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- Publication type:
- Article
Design and evaluation of bi-functional iron chelators for protection of dopaminergic neurons from toxicants.
- Published in:
- Archives of Toxicology, 2020, v. 94, n. 9, p. 3105, doi. 10.1007/s00204-020-02826-y
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- Publication type:
- Article
The effect of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) severity on cellular bioenergetic function.
- Published in:
- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0231136
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- Publication type:
- Article
Novel 1-hydroxypyridin-2-one metal chelators prevent and rescue ubiquitin proteasomal-related neuronal injury in an in vitro model of Parkinson's disease.
- Published in:
- Archives of Toxicology, 2020, v. 94, n. 3, p. 813, doi. 10.1007/s00204-020-02672-y
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- Publication type:
- Article
Altered motor, anxiety-related and attentional task performance at baseline associate with multiple gene copies of the vesicular acetylcholine transporter and related protein overexpression in ChAT::Cre+ rats.
- Published in:
- Brain Structure & Function, 2019, v. 224, n. 9, p. 3095, doi. 10.1007/s00429-019-01957-y
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- Publication type:
- Article
What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
- Published in:
- Evolutionary Applications, 2019, v. 12, n. 10, p. 1912, doi. 10.1111/eva.12851
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- Publication type:
- Article
Assessing cellular energy dysfunction in CFS/ME using a commercially available laboratory test.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47966-z
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- Publication type:
- Article
Mitochondrial complex activity in permeabilised cells of chronic fatigue syndrome patients using two cell types.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.6500
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- Publication type:
- Article
MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-39060-1
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- Publication type:
- Article
Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations.
- Published in:
- Journal of Molecular Evolution, 2018, v. 86, n. 6, p. 395, doi. 10.1007/s00239-018-9855-7
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- Publication type:
- Article
Temporal-Spatial Profiling of Pedunculopontine Galanin-Cholinergic Neurons in the Lactacystin Rat Model of Parkinson’s Disease.
- Published in:
- Neurotoxicity Research, 2018, v. 34, n. 1, p. 16, doi. 10.1007/s12640-017-9846-2
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- Publication type:
- Article
The aetiology of cardiovascular disease: a role for mitochondrial DNA?
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- Cardiovascular Journal of Africa, 2018, v. 29, n. 2, p. 122, doi. 10.5830/CVJA-2017-037
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- Publication type:
- Article
Correction: Cellular bioenergetics is impaired in patients with chronic fatigue syndrome.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease.
- Published in:
- 2017
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- Publication type:
- journal article
Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0187862
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- Publication type:
- Article
Cellular bioenergetics is impaired in patients with chronic fatigue syndrome.
- Published in:
- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186802
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- Publication type:
- Article
Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0387-6
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- Publication type:
- Article
Pedunculopontine cell loss and protein aggregation direct microglia activation in parkinsonian rats.
- Published in:
- Brain Structure & Function, 2016, v. 221, n. 4, p. 2319, doi. 10.1007/s00429-015-1045-4
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- Publication type:
- Article
Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?
- Published in:
- SAMJ: South African Medical Journal, 2016, v. 106, n. 3, p. 234, doi. 10.7196/SAMJ.2016.v106i3.10170
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- Publication type:
- Article
Pharmacogenetic stimulation of cholinergic pedunculopontine neurons reverses motor deficits in a rat model of Parkinson's disease.
- Published in:
- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0044-5
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- Publication type:
- Article
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 569, doi. 10.1002/humu.22789
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- Publication type:
- Article
An animal model mimicking pedunculopontine nucleus cholinergic degeneration in Parkinson's disease.
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- Brain Structure & Function, 2015, v. 220, n. 1, p. 479, doi. 10.1007/s00429-013-0669-5
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- Publication type:
- Article
Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004620
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- Publication type:
- Article
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 949, doi. 10.1093/hmg/ddt490
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- Publication type:
- Article
Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003082
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- Publication type:
- Article
Toward a mtDNA locus-specific mutation database using the LOVD platform.
- Published in:
- Human Mutation, 2012, v. 33, n. 9, p. 1352, doi. 10.1002/humu.22118
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- Publication type:
- Article
Raising Doubts about the Pathogenicity of Mitochondrial DNA Mutation m.3308T>C in Left Ventricular Hypertraveculation/Noncompaction.
- Published in:
- Cardiology, 2012, v. 122, n. 3, p. 113, doi. 10.1159/000339348
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- Publication type:
- Article
Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 650, doi. 10.1038/ejhg.2011.262
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- Publication type:
- Article
Aggregation, impaired degradation and immunization targeting of amyloid-beta dimers in Alzheimer's disease: a stochastic modelling approach.
- Published in:
- Molecular Neurodegeneration, 2012, v. 7, n. 1, p. 32, doi. 10.1186/1750-1326-7-32
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- Publication type:
- Article
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1319, doi. 10.1002/humu.21575
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- Publication type:
- Article
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 4, p. 923, doi. 10.1007/s10545-011-9325-5
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- Publication type:
- Article
Call for participation in the neurogenetics consortium within the Human Variome Project.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 169, doi. 10.1007/s10048-011-0287-4
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- Publication type:
- Article
Habitual Physical Activity in Mitochondrial Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022294
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- Publication type:
- Article
Mitochondrial DNA disease: new options for prevention.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. R2, p. R168, doi. 10.1093/hmg/ddr373
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- Publication type:
- Article
Mitochondrial tRNA mutations and disease.
- Published in:
- Wiley Interdisciplinary Reviews: RNA, 2010, v. 1, n. 2, p. 304, doi. 10.1002/wrna.27
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- Publication type:
- Article
Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. E984, doi. 10.1002/humu.21113
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- Publication type:
- Article
The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons.
- Published in:
- Aging Cell, 2009, v. 8, n. 4, p. 496, doi. 10.1111/j.1474-9726.2009.00492.x
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- Publication type:
- Article
Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease.
- Published in:
- 2008
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- Publication type:
- research
Investigation of the Role of Mitochondrial DNA in Multiple Sclerosis Susceptibility.
- Published in:
- PLoS ONE, 2008, v. 3, n. 8, p. 1, doi. 10.1371/journal.pone.0002891
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- Publication type:
- Article
Does mitochondrial DNA predispose to neuromyelitis optica (Devics disease)?
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 4, p. e93, doi. 10.1093/brain/awm224
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- Publication type:
- Article
Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?
- Published in:
- 2008
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- Publication type:
- letter
Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA.
- Published in:
- PLoS Biology, 2008, v. 6, n. 1, p. e10, doi. 10.1371/journal.pbio.0060010
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- Publication type:
- Article