Article
In vivo maturation of human frataxin.
Human molecular genetics - 1 Jul 2007
Condò Ivano, Ventura Natascia, Malisan Florence, Rufini Alessandra, Tomassini Barbara, Testi Roberto
Abstract excerpt
The defective expression of frataxin causes the hereditary neurodegenerative disorder Friedreich's ataxia (FRDA). Human frataxin is synthesized as a 210 amino acid precursor protein, which needs proteolytic processing into mitochondria to be converted into the functional mature form. In vitro processing of human frataxin was previously described to yield a 155 amino acid mature form, corresponding to residues...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.