A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

Introduction: Friedreich ataxia (FRDA) is a recessive neurodegenerative disease characterized by progressive ataxia, dyscoordination, and loss of vision. The variable length of the pathogenic GAA triplet repeat expansion in the FXN gene in part explains the interindividual variability in the severit...

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Detalles Bibliográficos
Autores principales: Rodden, Layne N., Rummey, Christian, Dong, Yi Na, Lagedrost, Sarah, Regner, Sean, Brocht, Alicia, Bushara, Khalaf, Delatycki, Martin B., Gomez, Christopher M., Mathews, Katherine, Murray, Sarah, Perlman, Susan, Ravina, Bernard, Subramony, S. H., Wilmot, George, Zesiewicz, Theresa, Bolotta, Alessandra, Domissy, Alain, Jespersen, Christine, Ji, Baohu, Soragni, Elisabetta, Gottesfeld, Joel M., Lynch, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9483148/
https://www.ncbi.nlm.nih.gov/pubmed/36133907
http://dx.doi.org/10.3389/fmolb.2022.933788

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