ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

ATP6V1H is a component of a large protein complex with vacuolar ATPase (V-ATPase) activity. We identified two generations of individuals in which short stature and osteoporosis co-segregated with a mutation in ATP6V1H. Since V-ATPases are highly conserved between human and zebrafish, we generated lo...

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Detalles Bibliográficos
Autores principales: Zhang, Yihan, Huang, Haigen, Zhao, Gexin, Yokoyama, Tadafumi, Vega, Hugo, Huang, Yan, Sood, Raman, Bishop, Kevin, Maduro, Valerie, Accardi, John, Toro, Camilo, Boerkoel, Cornelius F., Lyons, Karen, Gahl, William A., Duan, Xiaohong, Malicdan, May Christine V., Lin, Shuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291374/
https://www.ncbi.nlm.nih.gov/pubmed/28158191
http://dx.doi.org/10.1371/journal.pgen.1006481

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