Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich’s ataxia

Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a triplet guanine-adenine-adenine (GAA) repeat expansion in intron 1 of the FXN gene, which leads to decreased levels of the frataxin protein. Frataxin is involved in the formation of iron-sulfur (Fe-S) cluster...

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Detalles Bibliográficos
Autores principales: Wang, Dezhen, Ho, Elaine S., Cotticelli, M. Grazia, Xu, Peining, Napierala, Jill S., Hauser, Lauren A., Napierala, Marek, Himes, Blanca E., Wilson, Robert B., Lynch, David R., Mesaros, Clementina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399481/
https://www.ncbi.nlm.nih.gov/pubmed/35850241
http://dx.doi.org/10.1016/j.jlr.2022.100255

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