Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach t...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4347224/
https://ncbi.nlm.nih.gov/pubmed/25250574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI75199
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