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Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expanded CGG (CGG(exp)) trinucleotides in the 5′UTR of the FMR1 gene encoding fragile X mental retardation protein (FMRP). The patients, with the number of the repeats ranging from 55 to 200, sho...

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Detalles Bibliográficos
Autores principales: Derbis, Magdalena, Konieczny, Patryk, Walczak, Agnieszka, Sekrecki, Michal, Sobczak, Krzysztof
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018535/
https://www.ncbi.nlm.nih.gov/pubmed/29971092
http://dx.doi.org/10.3389/fgene.2018.00216