Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

By F. Tassone, Randi J. Hagerman, Annette K. Taylor, L. Gane, T. Godfrey, P. Hagerman. American Journal of Human Genetics, 2000

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Converging mechanisms in ALS and FTD: Disrupted RNA and protein homeostasis (2013, positive): “In contrast to transcriptional silencing in FXS (Tassone et al., 2000), accumulation of FMR1 mRNA in FXTAS is elevated at least 5-fold, presumably because it is stabilized by binding of hnRNP A2/B1, Pur-a (purine-rich binding protein-a), Sam68, hnRNP-G, along with CUG-binding protein 1 (CUG-BP1) and”
Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005, background): “The main molecular abnormality in FXTAS is the 2–5 fold increase in FMR1 mRN”
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. (2003, methodology): “…in fragile X syndrome and, as suggested previously (Hagerman et al. 2001; Greco et al. 2002), may be related to a gainof-function toxic effect of the elevated FMR1 mRNA levels (and, specifically, elevated CGG repeat levels) previously reported (Tassone et al. 2000a, 2000b; Kenneson et al. 2001).”
Expandable DNA repeats and human disease (2007, background): “In patients with fragile X tremor and ataxia syndrome, transcripts containing intermediate-size (CGG) n repeats are overproduced, forming intranuclear inclusions in the neurons and astrocyte”
The Fly as a Model for Neurodegenerative Diseases: Is It Worth the Jump? (2007, neutral): “). Since FMR1 premutation alleles differ from both normal and full mutation alleles by producing more FMR1 transcripts with lengthy rCGG repeats [”