Neuropathology of RAN translation proteins in fragile X-associated tremor/ataxia syndrome

CGG repeat expansions in FMR1 cause the neurodegenerative disorder Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Ubiquitinated neuronal intranuclear inclusions (NIIs) are the neuropathological hallmark of FXTAS. Both sense strand derived CGG repeats and antisense strand derived CCG repeats su...

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Detalles Bibliográficos
Autores principales: Krans, Amy, Skariah, Geena, Zhang, Yuan, Bayly, Bryana, Todd, Peter K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821001/
https://www.ncbi.nlm.nih.gov/pubmed/31665086
http://dx.doi.org/10.1186/s40478-019-0782-7

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