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 ...

Verfasser: Arnaud Sartelet
Tobias Stauber
Wouter Coppieters
Carmen F. Ludwig
Corinne Fasquelle
Tom Druet
Zhiyan Zhang
Naima Ahariz
Nadine Cambisano
Thomas J. Jentsch
Carole Charlier
Dokumenttyp: Artikel
Erscheinungsdatum: 2014
Reihe/Periodikum: Disease Models & Mechanisms, Vol 7, Iss 1, Pp 119-128 (2014)
Verlag/Hrsg.: The Company of Biologists
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
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Link(s) : https://doi.org/10.1242/dmm.012500