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

Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation.

Author information

1
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: fen-biao.gao@umassmed.edu.
2
Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.

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

PMID:
28103472
DOI:
10.1016/j.neuron.2017.01.001
[Indexed for MEDLINE]
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