VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease.

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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Autores principales: Mallikarjun Badadani, Angèle Nalbandian, Giles D Watts, Jouni Vesa, Masashi Kitazawa, Hailing Su, Jasmin Tanaja, Eric Dec, Douglas C Wallace, Jogeshwar Mukherjee, Vincent Caiozzo, Matthew Warman, Virginia E Kimonis
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2010
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/2cdd0745e5b14c47b170f59034a2bb34
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