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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Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2018
Matèries:
Genetics
Accés en línia: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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