Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties

Friedreich ataxia is an autosomal recessive multisystem disorder with prominent neurological manifestations and cardiac involvement. The disease is caused by large GAA expansions in the first intron of the FXN gene, encoding the mitochondrial protein frataxin, resulting in downregulation of gene exp...

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Detalles Bibliográficos
Autores principales: Dionisi, Chiara, Chazalon, Marine, Rai, Myriam, Keime, Céline, Imbault, Virginie, Communi, David, Puccio, Hélène, Schiffmann, Serge N, Pandolfo, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9972525/
https://www.ncbi.nlm.nih.gov/pubmed/36865673
http://dx.doi.org/10.1093/braincomms/fcad007

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