title: Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation.
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.
authors.affiliation: Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: fen-biao.gao@umassmed.edu.
authors.forename: Fen-Biao
authors.initials: FB
authors.lastname: Gao
authors.affiliation: Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.
authors.forename: Joel D
authors.initials: JD
authors.lastname: Richter
mesh_terms: D001259:Ataxia / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats; D011506:Proteins / Q000235:genetics; D014202:Tremor / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D011506:Proteins
keywords: ALS; C9ORF72; FMR1; FXTAS; RAN translation; frontotemporal dementia; microsatellite; neurodegeneration; nuclear lamina; repeats