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 2 of 2 for “"Complex I assembly factor"”.
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The Role of ECSIT in Mitochondrial Dysfunction Mediated Cardiomyopathy
… It also functions as a mitochondrial complex I assembly factor and loss of function leads to a reduction in fully assembled complex I. As part of a large scale ENU mutagenesis screen, The Harwell Ageing Screen, a novel missense mutation (N209I) was identified in ECSIT which resulted in …
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The Molecular Anatomy of Mitochondrial Disease: Identification and Characterisation of Novel Nuclear-Encoded Mitochondrial Disease Genes
… which encodes a putative cytochrome c oxidase (Complex IV, COX) assembly factor, and homozygous recessive sequence variants in TMCO6, which encodes an uncharacterised protein, were identified in patients presenting with classical clinical and biochemical hallmarks of mitochondrial disease. The …