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Plasma metabolic profile delineates roles for neurodegeneration, pro-inflammatory damage and mitochondrial dysfunction in the FMR1 premutation

Carriers of premutation CGG expansions in the fragile X mental retardation 1 (FMR1) gene are at higher risk of developing a late-onset neurodegenerative disorder named Fragile X-tremor ataxia syndrome (FXTAS). Given that mitochondrial dysfunction has been identified in fibroblasts, PBMC and brain sa...

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Publicado en:Biochem J
Autores principales: Giulivi, Cecilia, Napoli, Eleonora, Tassone, Flora, Halmai, Julian, Hagerman, Randi
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7014977/
https://ncbi.nlm.nih.gov/pubmed/27555610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20160585
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