alexa Advances in understanding the molecular basis of FXTAS.
Engineering

Engineering

Advances in Robotics & Automation

Author(s): GarciaArocena D, Hagerman PJ

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Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as other forms of clinical involvement in carriers without FXTAS, are thought to arise from a toxic gain of function of transcriptionally active FMR1 containing expanded CGG repeats. Although the precise mechanisms involved in rCGG toxicity are unknown, here we discuss the latest advances and models that contribute to the understanding of the molecular basis of FXTAS, and the emerging view of FXTAS as the end-stage of a process that begins in early development.
This article was published in Hum Mol Genet and referenced in Advances in Robotics & Automation

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