Reduced EAAT1 and mGluR5 expression in the cerebellum of FMR1 premutation carriers with FXTAS

A premutation (PM) expansion (55–200 CGG) in the fragile X mental retardation gene 1 (FMR1) causes elevated mRNA and reduced FMR1 protein (FMRP). Young PM carriers can develop characteristic physical features and mild cognitive disabilities. In addition, individuals with PM, particularly male carrie...

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Autori principali: Pretto, Dalyir I., Kumar, Madhur, Cao, Zhengyu, Cunningham, Christopher L., Durbin-Johnson, Blythe, Qi, Lihong, Berman, Robert, Noctor, Stephen C., Hagerman, Randi J., Pessah, Isaac N., Tassone, Flora
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4062976/
https://ncbi.nlm.nih.gov/pubmed/24332449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2013.11.009
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