Results 1 to 10 of about 1,199,861 (319)
In vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue
Nature Communications, 2022 Mutations in mitochondrial DNA can lead to clinically heterogeneous disease. Here the authors demonstrate in vivo base editing of mouse mitochondrial DNA in a post-mitotic tissue by AAV delivery of DddA-derived cytosine base editor (DdCBE).
Pedro Silva-Pinheiro +5 more
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Structural basis for a complex I mutation that blocks pathological ROS production
Nature Communications, 2021 Reactive oxygen species (ROS) production by reverse electron transfer (RET) through complex I is thought to cause tissue damage from heart attacks. Here, the authors combine in vivo work with biochemical and cryo-EM analyses to characterize the effects ...
Zhan Yin +12 more
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Imaging mass cytometry reveals generalised deficiency in OXPHOS complexes in Parkinson’s disease
npj Parkinson's Disease, 2021 Here we report the application of a mass spectrometry-based technology, imaging mass cytometry, to perform in-depth proteomic profiling of mitochondrial complexes in single neurons, using metal-conjugated antibodies to label post-mortem human midbrain ...
Chun Chen +12 more
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Intensive Care Medicine Experimental, 2018 Background Metformin is the most common pharmacological treatment for type 2 diabetes. It is considered safe but has been associated with the development of lactic acidosis under circumstances where plasma concentrations exceed therapeutic levels ...
Sarah Piel +6 more
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Journal of Biomedical Science, 2023 Background Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare inherited mitochondrial disease mainly caused by the m.8344A > G mutation in mitochondrial tRNALys gene, and usually manifested as complex neurological disorders and muscle ...
Yu-Ting Wu +5 more
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Journal of Primary Care & Community Health, 2023 Primary mitochondrial myopathies (PMM) are rare disorders with diverse and progressive symptom presentations that cause a substantial, detrimental impact on the quality of life of patients and their caregivers.
Margaret Moore +2 more
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Acta Neuropathologica Communications, 2020 Neurons of the nucleus basalis of Meynert (nbM) are vulnerable to Lewy body formation and neuronal loss, which is thought to underlie cognitive dysfunction in Lewy body dementia (LBD).
Christopher Hatton +9 more
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Astrocytic pathology in Alpers’ syndrome
Acta Neuropathologica Communications, 2023 Refractory epilepsy is the main neurological manifestation of Alpers’ syndrome, a severe childhood-onset mitochondrial disease caused by bi-allelic pathogenic variants in the mitochondrial DNA (mtDNA) polymerase gamma gene (POLG).
Laura A Smith +5 more
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Cell Death and Disease, 2023 Accumulation of α-synuclein aggregates in the substantia nigra pars compacta is central in the pathophysiology of Parkinson’s disease, leading to the degeneration of dopaminergic neurons and the manifestation of motor symptoms. Although several PD models
Olivier Lurette +10 more
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Paracoccus denitrificans: a genetically tractable model system for studying respiratory complex I
Scientific Reports, 2021 Mitochondrial complex I (NADH:ubiquinone oxidoreductase) is a crucial metabolic enzyme that couples the free energy released from NADH oxidation and ubiquinone reduction to the translocation of four protons across the inner mitochondrial membrane ...
Owen D. Jarman +3 more
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