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 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 causative for the disease. Here we identified and characterized a new deleterious ClC-7 mutation in... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2014 |
Reihe/Periodikum: | Disease Models & Mechanisms, Vol 7, Iss 1, Pp 119-128 (2014) |
Verlag/Hrsg.: |
The Company of Biologists
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Schlagwörter: | CLCN7 / Hamartomas / Osteopetrosis / Lysosomal storage / Ion homeostasis / Belgian Blue cattle / Medicine / R / Pathology / RB1-214 |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28886083 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.1242/dmm.012500 |