VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

Dominant mutations in the valosin containing protein (VCP) gene cause inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD). We have generated a knock-in mouse model with the common R155H mutation. Mice demonstrate progressive muscle weakness start...

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Hlavní autoři: Badadani, Mallikarjun, Nalbandian, Angèle, Watts, Giles D., Vesa, Jouni, Kitazawa, Masashi, Su, Hailing, Tanaja, Jasmin, Dec, Eric, Wallace, Douglas C., Mukherjee, Jogeshwar, Caiozzo, Vincent, Warman, Matthew, Kimonis, Virginia E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2950155/
https://ncbi.nlm.nih.gov/pubmed/20957154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0013183
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