{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T06:33:40Z","timestamp":1787985220629,"version":"build-2784847793"},"reference-count":120,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T00:00:00Z","timestamp":1642723200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>CLC proteins comprise Cl\u2212 channels and anion\/H+ antiporters involved in several fundamental physiological processes. ClC-7 is a lysosomal Cl\u2212\/H+ antiporter that together with its beta subunit Ostm1 has a critical role in the ionic homeostasis of lysosomes and of the osteoclasts\u2019 resorption lacuna, although the specific underlying mechanism has so far remained elusive. Mutations in ClC-7 cause osteopetrosis, but also a form of lysosomal storage disease and neurodegeneration. Interestingly, both loss-of- and gain-of-function mutations of ClC-7 can be pathogenic, but the mechanistic implications of this finding are still unclear. This review will focus on the recent advances in our understanding of the biophysical properties of ClC-7 and of its role in human diseases with a focus on osteopetrosis and neurodegeneration.<\/jats:p>","DOI":"10.3390\/cells11030366","type":"journal-article","created":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T08:37:18Z","timestamp":1642754238000},"page":"366","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["The Role of the Lysosomal Cl\u2212\/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration"],"prefix":"10.3390","volume":"11","author":[{"given":"Giovanni","family":"Zifarelli","sequence":"first","affiliation":[{"name":"Institute of Biophysics\u2014CNR, 16149 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1152\/physrev.00047.2017","article-title":"CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease","volume":"98","author":"Jentsch","year":"2018","journal-title":"Physiol. 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