The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

BACKGROUND: Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron-sulfur cluster (ISC) biogenesis. Most patients are homozygous for a (GAA)(n) expansion within the first intron of the...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Calmels, Nadège, Schmucker, Stéphane, Wattenhofer-Donzé, Marie, Martelli, Alain, Vaucamps, Nadège, Reutenauer, Laurence, Messaddeq, Nadia, Bouton, Cécile, Koenig, Michel, Puccio, Hélène
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2009
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2710521/
https://ncbi.nlm.nih.gov/pubmed/19629184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0006379
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items