ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

Zhang, YH; Huang, HG; Zhao, GX; Yokoyama, T; Vega, H; Huang, Y; Sood, R; Bishop, K; Maduro, V; Accardi, J; Toro, C; Boerkoel, CF; Lyons, K; Gahl, WA; Duan, XH; Malicdan, MCV; Lin, S

Lin, S (reprint author), Univ Calif Los Angeles, Dept Mol Cell & Dev Biol, Los Angeles, CA USA.; Malicdan, MCV (reprint author), NIH, Med Genet Branch, Natl Human Genome Res Inst, Bethesda, MD USA.; Malicdan, MCV (reprint author), NIH, NIH Undiagnosed Dis

PLOS GENETICS, 2017; 13 (2):

Abstract

ATP6V1H is a component of a large protein complex with vacuolar ATPase (V-ATPase) activity. We identified two generations of individuals in which shor......

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