V-ATPase a3 isoform mutations identified in osteopetrosis patients abolish its expression and disrupt osteoclast function
Naomi Matsumoto, Reina Matsukawa, Shohei Takahashi, Koshi Kudo, Ge‐Hong Sun‐Wada, Yoh Wada, Mayumi Nakanishi‐Matsui
Topics & Concepts
OsteopetrosisBiologyMissense mutationOsteoclastBone resorptionV-ATPaseMutantMutationGene isoformCell biologyMolecular biologyGeneticsProtein subunitGeneIn vitroImmunologyATP Synthase and ATPases ResearchBone Metabolism and DiseasesRNA modifications and cancer