Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain
Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli, Giulia Tombesi, Federica d’Ettorre, Daniele Ottaviani, Elena Marchesan, Luigi Leanza, Elisa Greggio, Elena Ziviani, Antonella Russo, Milena Bellin, Geppo Sartori, Donatella Carbonera, Leonardo Salviati, Paola Costantini · 2023
Read Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain by Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli, Giulia Tombesi, Federica d’Ettorre, Daniele Ottaviani, Elena Marchesan, Luigi Leanza, Elisa Greggio, Elena Ziviani, Antonella Russo, Milena Bellin, Geppo Sartori, Donatella Carbonera, Leonardo Salviati, Paola Costantini (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10703789.txt.
Description
Davide Doni and a large team show that frataxin, the protein missing in Friedreich ataxia, physically partners with the cell's energy complexes, in a study from 2023. The disease stems from a repeated DNA stretch that silences the frataxin gene. Frataxin helps build iron-sulfur clusters the breathing chain needs, but how its loss drains energy was murky.
In healthy and patient-derived cells, frataxin was found interacting with respiratory complexes one, two, and three. Patient mitochondria showed a specific drop in the iron-sulfur content of complex one. The work ties frataxin's position on the inner membrane folds to the disease's earliest energy defects.
Catalog record
| CREATOR | Davide Doni, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli, Giulia Tombesi, Federica d’Ettorre, Daniele Ottaviani, Elena Marchesan, Luigi Leanza, Elisa Greggio, Elena Ziviani, Antonella Russo, Milena Bellin, Geppo Sartori, Donatella Carbonera, Leonardo Salviati, Paola Costantini |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 68 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |