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Repeat-associated non-ATG (RAN) translation.
Cleary, John Douglas; Pattamatta, Amrutha; Ranum, Laura P W.
Afiliação
  • Cleary JD; From the Center for NeuroGenetics.
  • Pattamatta A; Departments of Molecular Genetics and Microbiology and.
  • Ranum LPW; Genetics Institute, and.
J Biol Chem ; 293(42): 16127-16141, 2018 10 19.
Article em En | MEDLINE | ID: mdl-30213863
Microsatellite expansions cause more than 40 neurological disorders, including Huntington's disease, myotonic dystrophy, and C9ORF72 amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD). These repeat expansion mutations can produce repeat-associated non-ATG (RAN) proteins in all three reading frames, which accumulate in disease-relevant tissues. There has been considerable interest in RAN protein products and their downstream consequences, particularly for the dipeptide proteins found in C9ORF72 ALS/FTD. Understanding how RAN translation occurs, what cellular factors contribute to RAN protein accumulation, and how these proteins contribute to disease should lead to a better understanding of the basic mechanisms of gene expression and human disease.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Repetições de Microssatélites / Expansão das Repetições de DNA / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Biol Chem Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Repetições de Microssatélites / Expansão das Repetições de DNA / Doenças do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: J Biol Chem Ano de publicação: 2018 Tipo de documento: Article