Nature neuroscience, 2015-09, Vol.18 (9), p.1226-1229
2015
Details
- Autor(en) / Beteiligte
- Titel
- Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS
- Ist Teil von
- Nature neuroscience, 2015-09, Vol.18 (9), p.1226-1229
- Ort / Verlag
- United States: Nature Publishing Group
- Erscheinungsjahr
- 2015
- Link zum Volltext
- Quelle
- EBSCOhost Psychology and Behavioral Sciences Collection
- Beschreibungen/Notizen
- C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Dipeptide repeat proteins (DPRs) produced by unconventional translation of the C9orf72 repeat expansions cause neurodegeneration in cell culture and in animal models. We performed two unbiased screens in Saccharomyces cerevisiae and identified potent modifiers of DPR toxicity, including karyopherins and effectors of Ran-mediated nucleocytoplasmic transport, providing insight into potential disease mechanisms and therapeutic targets.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1097-6256eISSN: 1546-1726DOI: 10.1038/nn.4085Titel-ID: cdi_proquest_miscellaneous_1773833735
- Format
- –
- Schlagworte
- Active Transport, Cell Nucleus - physiology, Amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis - genetics, Amyotrophic Lateral Sclerosis - metabolism, Animals, C9orf72 Protein, Cell Nucleus - genetics, Cell Nucleus - metabolism, Cells, Cultured, Dipeptides - genetics, Dipeptides - metabolism, DNA Repeat Expansion - physiology, Frontotemporal dementia, Frontotemporal Dementia - genetics, Frontotemporal Dementia - metabolism, Gene Deletion, Gene mutations, Genetic aspects, Health aspects, Humans, Mice, Proteins - genetics, Proteins - metabolism, Risk factors, Saccharomyces cerevisiae, Yeasts