Why do allelic variants of the mitochondrial chaperone SCO1 cause clinically heterogeneous forms of disease? A mouse model and proximity ligation study
Date
2025-05-05
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
ORCID
0009-0004-0501-9381
Type
Thesis
Degree Level
Doctoral
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Description
Keywords
SCO1 mutations, cytochrome c oxidase, COX deficiency, clinical heterogeneity, BioID, knock-in mice, copper deficiency, interactome, tissue specificity
Citation
Degree
Doctor of Philosophy (Ph.D.)
Department
Biochemistry, Microbiology and Immunology
Program
Biochemistry