Analyzing the Effects of a G137V Mutation in the FXN Gene

Reduced levels of frataxin, an essential mitochondrial protein involved in the regulation of iron-sulfur cluster biogenesis, are responsible for the recessive neurodegenerative Friedreich Ataxia (FRDA). Expansion of a GAA triplet in the first intron of the FRDA is essential for disease development w...

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Detalles Bibliográficos
Autores principales: Faggianelli, Nathalie, Puglisi, Rita, Veneziano, Liana, Romano, Silvia, Frontali, Marina, Vannocci, Tommaso, Fortuni, Silvia, Testi, Roberto, Pastore, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658817/
https://www.ncbi.nlm.nih.gov/pubmed/26635519
http://dx.doi.org/10.3389/fnmol.2015.00066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658817/
https://www.ncbi.nlm.nih.gov/pubmed/26635519
http://dx.doi.org/10.3389/fnmol.2015.00066

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