The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

The fragile X premutation (PM) allele contains a CGG expansion of 55–200 repeats in the FMR1 gene’s promoter. Male PM carriers have an elevated risk of developing neurological and psychiatric changes, including an approximately 50% risk of the fragile X-associated tremor/ataxia syndrome (FXTAS). The...

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Pubblicato in:Front Genet
Autori principali: Loesch, Danuta Z., Trost, Nicholas, Bui, Minh Q., Hammersley, Eleanor, Lay, Sui T., Annesley, Sarah J., Sanislav, Oana, Allan, Claire Y., Tassone, Flora, Chen, Zhi-Ping, Ngoei, Kevin R. W., Kemp, Bruce E., Francis, David, Fisher, Paul R., Storey, Elsdon
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018
Soggetti:
Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6241173/
https://ncbi.nlm.nih.gov/pubmed/30483310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00531
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