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

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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Bibliographic Details
Main Authors: Arnaud Sartelet, Tobias Stauber, Wouter Coppieters, Carmen F. Ludwig, Corinne Fasquelle, Tom Druet, Zhiyan Zhang, Naima Ahariz, Nadine Cambisano, Thomas J. Jentsch, Carole Charlier
Format: Article
Language:English
Published: The Company of Biologists 2014-01-01
Series:Disease Models & Mechanisms
Subjects:
CLCN7
Hamartomas
Osteopetrosis
Lysosomal storage
Ion homeostasis
Belgian Blue cattle
Online Access:http://dmm.biologists.org/content/7/1/119

Internet

http://dmm.biologists.org/content/7/1/119

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