Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

Valosin-containing protein (VCP) is a highly expressed member of the type II AAA+ ATPase family. VCP mutations are the cause of inclusion body myopathy, Paget’s disease of the bone, and frontotemporal dementia (IBMPFD) and they account for 1%–2% of familial amyotrophic lateral sclerosis (ALS). Using...

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Detalles Bibliográficos
Autores principales: Bartolome, Fernando, Wu, Hsiu-Chuan, Burchell, Victoria S., Preza, Elisavet, Wray, Selina, Mahoney, Colin J., Fox, Nick C., Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Mandrioli, Jessica, Chiò, Adriano, Orrell, Richard W., Houlden, Henry, Hardy, John, Abramov, Andrey Y., Plun-Favreau, Helene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2013
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843114/
https://www.ncbi.nlm.nih.gov/pubmed/23498975
http://dx.doi.org/10.1016/j.neuron.2013.02.028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843114/
https://www.ncbi.nlm.nih.gov/pubmed/23498975
http://dx.doi.org/10.1016/j.neuron.2013.02.028

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