Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease with developmental features caused by a genetic deficiency of frataxin, a small, nuclear-encoded mitochondrial protein. Frataxin deficiency leads to impairment of iron–sulphur cluster synthesis, and consequently, ATP production abno...

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Detalles Bibliográficos
Autores principales: Clark, Elisia, Johnson, Joseph, Dong, Yi Na, Mercado-Ayon, Elizabeth, Warren, Nathan, Zhai, Mattieu, McMillan, Emily, Salovin, Amy, Lin, Hong, Lynch, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373238/
https://www.ncbi.nlm.nih.gov/pubmed/32714592
http://dx.doi.org/10.1042/NS20180060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373238/
https://www.ncbi.nlm.nih.gov/pubmed/32714592
http://dx.doi.org/10.1042/NS20180060

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