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 1 of 1 for “"SCO1 mutations"”.
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Why do allelic variants of the mitochondrial chaperone SCO1 cause clinically heterogeneous forms of disease? A mouse model and proximity ligation study
SCO1 is a ubiquitously expressed, nuclear-encoded mitochondrial protein that has an essential role in cytochrome c oxidase (COX) assembly and the regulation of cellular copper homeostasis. While SCO1 mutations result in clinically heterogenous forms of disease with fatal, neonatal outcomes, it …