Moreover, a heterozygous mutation in KIF5B was identified in four patients with osteogenesis imperfecta (OI) and analysis of primary patient fibroblasts showed an impaired intracellular transport of mitochondria and abnormal Golgi positioning and resulted in a downregulation of mTOR signaling supporting the implication of KIF5B in regulation of autophagy (98). Here, MTOR is linked to osteogenesis imperfecta.