Work

Protein Folding and Disease the Mitochondrial Protein Frataxin

Year: 2010

Type: dissertation

Abstract: This dissertation focuses on the study of frataxin, a small mitochondrial protein whose deficiency is associated with the neurodegenerative disease Friedreich's ataxia (FRDA). Aiming at a better understanding of frataxin conformational and functional properties, two lines of research were followed: first, the effect of FRDA-related mutations in human frataxin (FXN) were studied and the role of oxidative stress related modification addressed; second, yeast frataxin (Yfh1) orthologue was used to explore the conformational and functional properties of the protein.(...)

Source: Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)

Author: Ana R. Correia

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: American Heart Association, National Ataxia Foundation, Muscular Dystrophy Association, National Institutes of Health

OpenAlex ID: W109339198

Cites: 68

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Related to: 10