Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory ch...
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
About this item
Full title
Author / Creator
Doni, Davide , Cavion, Federica , Bortolus, Marco , Baschiera, Elisa , Muccioli, Silvia , Tombesi, Giulia , d’Ettorre, Federica , Ottaviani, Daniele , Marchesan, Elena , Leanza, Luigi , Greggio, Elisa , Ziviani, Elena , Russo, Antonella , Bellin, Milena , Sartori, Geppo , Carbonera, Donatella , Salviati, Leonardo and Costantini, Paola
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an expanded GAA repeat in the first intron of the
FXN
gene, leading to transcriptional silencing and reduced expression of frataxin. Frataxin participates in the mitochondrial assembly of FeS clusters, redox cofactors of the respiratory complexes I, II and III....
Alternative Titles
Full title
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Authors, Artists and Contributors
Author / Creator
Cavion, Federica
Bortolus, Marco
Baschiera, Elisa
Muccioli, Silvia
Tombesi, Giulia
d’Ettorre, Federica
Ottaviani, Daniele
Marchesan, Elena
Leanza, Luigi
Greggio, Elisa
Ziviani, Elena
Russo, Antonella
Bellin, Milena
Sartori, Geppo
Carbonera, Donatella
Salviati, Leonardo
Costantini, Paola
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2899184248
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2899184248
Other Identifiers
ISSN
2041-4889
E-ISSN
2041-4889
DOI
10.1038/s41419-023-06320-y
