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Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit.
J Biol Chem. 2012 Aug 3;287(32):26829-39. doi: 10.1074/jbc.M112.345702. Epub 2012 Jun 8.
J Biol Chem. 2012.
PMID: 22685294
Free PMC article.
The R740S mutation in the V-ATPase a3 subunit increases lysosomal pH, impairs NFATc1 translocation, and decreases in vitro osteoclastogenesis.
Voronov I, Ochotny N, Jaumouillé V, Owen C, Manolson MF, Aubin JE.
Voronov I, et al.
J Bone Miner Res. 2013 Jan;28(1):108-18. doi: 10.1002/jbmr.1727.
J Bone Miner Res. 2013.
PMID: 22865292
Free article.
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