A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.
peer reviewed ; 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 Cl... Mehr ...
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Dokumenttyp: | journal article |
Erscheinungsdatum: | 2014 |
Verlag/Hrsg.: |
Company of Biologists
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Schlagwörter: | CLCN7 / hamartomas / osteopetrosis / lysosomal storage / ion homeostasis / Belgian Blue Cattle / Life sciences / Veterinary medicine & animal health / Biochemistry / biophysics & molecular biology / Genetics & genetic processes / Sciences du vivant / Médecine vétérinaire & santé animale / Biochimie / biophysique & biologie moléculaire / Génétique & processus génétiques |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28888567 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://orbi.uliege.be/handle/2268/160316 |