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.2017 Jan 18;93(2):249-251.
doi: 10.1016/j.neuron.2017.01.001.

Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation

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Free article

Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation

Fen-Biao Gao et al. Neuron..
Free article

Abstract

Sellier et al. (2017) show that translation of expanded CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cognate start codon. The resulting polyglycine-containing protein, but not repeat RNA, is pathogenic by disrupting the nuclear lamina.

Keywords: ALS; C9ORF72; FMR1; FXTAS; RAN translation; frontotemporal dementia; microsatellite; neurodegeneration; nuclear lamina; repeats.

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