ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

Transactivating response region DNA binding protein (TDP-43) is the major protein component of ubiquitinated inclusions found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions. Two ALS-causing mutants (TDP-43(Q331K) and TDP-43(M337V)),...

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Detalhes bibliográficos
Main Authors: Arnold, Eveline S., Ling, Shuo-Chien, Huelga, Stephanie C., Lagier-Tourenne, Clotilde, Polymenidou, Magdalini, Ditsworth, Dara, Kordasiewicz, Holly B., McAlonis-Downes, Melissa, Platoshyn, Oleksandr, Parone, Philippe A., Da Cruz, Sandrine, Clutario, Kevin M., Swing, Debbie, Tessarollo, Lino, Marsala, Martin, Shaw, Christopher E., Yeo, Gene W., Cleveland, Don W.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
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PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581922/
https://ncbi.nlm.nih.gov/pubmed/23382207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1222809110
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