Bone Abstracts

Mutations in PLEKHM1 cause bone disease in humans and animals. Truncations causedeficient bone resorption by osteoclasts leading to osteopetrosis. A gain-of-function point mutation causes increased resorption leading to osteopenia. We and others have shown that PLEKHM1, a multi-modular protein, interacts with the small GTPase rab7 and is involved in vesicle trafficking, secretion, and membrane biogenesis. To investigate other interactions of PLEKHM1 we performed tandem affinit...