Ontology highlight
ABSTRACT:
SUBMITTER: Sartelet A
PROVIDER: S-EPMC3882054 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Sartelet Arnaud A Stauber Tobias T Coppieters Wouter W Ludwig Carmen F CF Fasquelle Corinne C Druet Tom T Zhang Zhiyan Z Ahariz Naima N Cambisano Nadine N Jentsch Thomas J TJ Charlier Carole C
Disease models & mechanisms 20131023 1
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 ClC-7/Ostm1. However, it has remained unclear whether the fastened kinetics is indeed ...[more]