Article
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
Disease models & mechanisms - 1 Jan 2014
Sartelet Arnaud, Stauber Tobias, Coppieters Wouter, Ludwig Carmen F, Fasquelle Corinne, Druet Tom, Zhang Zhiyan, Ahariz Naima, Cambisano Nadine, Jentsch Thomas J, Charlier Carole
Abstract excerpt
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 mice and humans. Some human disease-causing CLCN7 mutations accelerate the usually slow voltage-dependent gating of...
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