Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-β1 Pathway.

doi:10.7150/thno.17140

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Article

Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-β1 Pathway.

Theranostics - 1 Jan 2016

Duan Xiaohong, Liu Jin, Zheng Xueni, Wang Zhe, Zhang Yanli, Hao Ying, Yang Tielin, Deng Hongwen

Abstract excerpt

Vacuolar-type H +-ATPase (V-ATPase) is a highly conserved, ancient enzyme that couples the energy of ATP hydrolysis to proton transport across vesicular and plasma membranes of eukaryotic cells. Previously reported mutations of various V-ATPase subunits are associated with increased bone density. We now show that haploinsufficiency for the H subunit of the V1 domain (ATP6V1H) is associated with osteoporosis in...

Topics

Animals
Bone Resorption
China
Genetic Predisposition to Disease
Humans
Mice, Knockout
Osteogenesis
Osteoporosis
Polymorphism, Single Nucleotide
Transforming Growth Factor beta1
Vacuolar Proton-Translocating ATPases

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Identifiers

PMID: 27924156
DOI: 10.7150/thno.17140
PMCID: PMC5135442

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