Genetic diagnosis and treatment of inherited retinopathies
Citation:
Matthew Carrigan, 'Genetic diagnosis and treatment of inherited retinopathies', [thesis], Trinity College (Dublin, Ireland). Department of Genetics, 2014, pp 272Download Item:
Abstract:
The first goal of this PhD was to improve and optimize a gene therapy based on the yeast protein Ndi 1 for Leber's Hereditary Optic Neuropathy (LHON), a mitochondrially-inherited retinal disorder. LHON is an incompletely-penetrating condition which presents most commonly in early adulthood, when affected patients suffer rapid, painless and permanent loss of visual acuity in one eye, usually followed by the other several weeks or months later. It is caused by mutations in genes encoding subunits of Complex I, a large multi-subunit mitochondrial enzyme with a crucial role in oxidative phosphorylation.
Author: Carrigan, Matthew
Advisor:
Farrar, JaneQualification name:
Doctor of Philosophy (Ph.D.)Publisher:
Trinity College (Dublin, Ireland). Department of GeneticsNote:
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Full text availableKeywords:
Genetics, Ph.D., Ph.D. Trinity College DublinMetadata
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