Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"Leigh syndrome"”.
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Unravelling the mechanisms behind brain pathology in Leigh syndrome
Contains fulltext : 332887.pdf (Publisher’s version ) (Closed access)
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The effects of complex I deficiency on neurogenesis and white matter development in a mouse model of Leigh Syndrome (LS)
Leigh syndrome (LS) is one of the most prevalent inherited mitochondrial disorders in pediatric population, typically presenting in early childhood with psychomotor regression and progressive neurological decline. Current understanding suggests that pathogenic variants affecting mitochondrial …
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Developing mouse complex I as a model system: structure, function and implications in mitochondrial diseases.
… result in severe neuromuscular disorders such as Leigh syndrome. Several structures of mammalian complex I from various organisms have been determined, but the limited resolutions of the structures, which typically refer to poorly characterised enzyme states, has hampered detailed analyses of …
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Investigation into the effects and mechanisms of rapamycin treatment in two mouse models of Complex I-deficient neurological pathology
… disease, Huntington's disease, Fragile X syndrome, Tuberous Sclerosis Complex and Leigh syndrome. How regulation of mTOR activity and its downstream effectors interact with underlying neural mechanisms of disease has been a topic of considerable debate. The studies presented here …
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MIR-181A/B INHIBITION AS A NEW STRATEGY FOR MITOCHONDRIAL DISEASE TREATMENT
… a Leber’s Hereditary Optic Neuropathy (LHON) and Leigh syndrome (LS) model, two of the most prevalent MDs, and the rotenone-induced mouse model, an additional in vivo model of LHON. Notably, our results demonstrate that the downregulation of miR-181a/b consistently ameliorates various phenotypes …