Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.
Sci Rep
; 6: 20877, 2016 Feb 12.
Article
em En
| MEDLINE
| ID: mdl-26869068
ABSTRACT
Hexanucleotide repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) (c9ALS/FTD). Unconventional translation of these repeats produces dipeptide repeat proteins (DPRs) that may cause neurodegeneration. We performed a modifier screen in Drosophila and discovered a critical role for importins and exportins, Ran-GTP cycle regulators, nuclear pore components, and arginine methylases in mediating DPR toxicity. These findings provide evidence for an important role for nucleocytoplasmic transport in the pathogenic mechanism of c9ALS/FTD.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Núcleo Celular
/
Testes Genéticos
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Genes de Insetos
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Sequências Repetitivas de Aminoácidos
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Dipeptídeos
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Drosophila melanogaster
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Demência Frontotemporal
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Esclerose Lateral Amiotrófica
Tipo de estudo:
Prognostic_studies
Limite:
Animals
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Humans
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article