Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.

doi:10.1002/jbmr.4200

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Article

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2021

Di Zanni Eleonora, Palagano Eleonora, Lagostena Laura, Strina Dario, Rehman Asma, Abinun Mario, De Somer Lien, Martire Baldassarre, Brown Justin, Kariminejad Ariana, Balasubramaniam Shanti, Baynam Gareth, Gurrieri Fiorella, Pisanti Maria A, De Maggio Ilaria, Abboud Miguel R, Chiesa Robert, Burren Christine P, Villa Anna, Sobacchi Cristina, Picollo Alessandra

Abstract excerpt

ClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are...

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PMID: 33125761
DOI: 10.1002/jbmr.4200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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