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Title: Nuclear mitochondrial interactions in human disease
Author: Stewart, Joanna
Awarding Body: University of Newcastle upon Tyne
Current Institution: University of Newcastle upon Tyne
Date of Award: 2008
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The maintenance of mitochondrial DNA (mtDNA) is dependent on DNA polymerase gamma (poly). The catalytic subunit encoded by the POLG1 gene has become the target for much investigation. Reported mutations result in disrupted mtDNA maintenance leading to a quantitative (depletion) or qualitative (point mutation or deletion) defects of mtDNA. This secondary genetic defect results in disruption of the respiratory chain and impaired oxidative phosphorylation.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available