The toxic effect of R350P mutant desmin in striated muscle of man and mouse

Mutations of the human desmin gene on chromosome 2q35 cause autosomal dominant, autosomal recessive and sporadic forms of protein aggregation myopathies and cardiomyopathies. We generated R349P desmin knock-in mice, which harbor the ortholog of the most frequently occurring human desmin missense mut...

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Detalles Bibliográficos
Autores principales: Clemen, Christoph S., Stöckigt, Florian, Strucksberg, Karl-Heinz, Chevessier, Frederic, Winter, Lilli, Schütz, Johanna, Bauer, Ralf, Thorweihe, José-Manuel, Wenzel, Daniela, Schlötzer-Schrehardt, Ursula, Rasche, Volker, Krsmanovic, Pavle, Katus, Hugo A., Rottbauer, Wolfgang, Just, Steffen, Müller, Oliver J., Friedrich, Oliver, Meyer, Rainer, Herrmann, Harald, Schrickel, Jan Wilko, Schröder, Rolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309020/
https://www.ncbi.nlm.nih.gov/pubmed/25394388
http://dx.doi.org/10.1007/s00401-014-1363-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309020/
https://www.ncbi.nlm.nih.gov/pubmed/25394388
http://dx.doi.org/10.1007/s00401-014-1363-2

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