OPA1 isoforms and protein domains in the rescue of mitochondrial dysfunctions
Mutations in OPA1 gene have been identified in the majority of patients with Dominant Optic Atrophy (DOA), a blinding disease, and the syndromic form DOA-plus. OPA1 protein is a mitochondrial GTPase involved in various mitochondrial functions, present in humans in eight isoforms, resulting from alte...
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| Format: | Doctoral Thesis |
| Language: | en |
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Alma Mater Studiorum - Università di Bologna
2015
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| Online Access: | http://amsdottorato.unibo.it/7033/ |