A missense mutation accelerating the gating of the lysosomal Cl(−)/H(+)-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle

Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption. Mice lacking either ClC-7 or Ostm1 develop a lysosomal storage disease and mutations in either protein have been found to underlie osteopetrosis in mi...

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Detalles Bibliográficos
Autores principales: Sartelet, Arnaud, Stauber, Tobias, Coppieters, Wouter, Ludwig, Carmen F., Fasquelle, Corinne, Druet, Tom, Zhang, Zhiyan, Ahariz, Naima, Cambisano, Nadine, Jentsch, Thomas J., Charlier, Carole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882054/
https://www.ncbi.nlm.nih.gov/pubmed/24159188
http://dx.doi.org/10.1242/dmm.012500

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