Dominant negative variants in < i > KIF5B < /i > cause osteogenesis imperfecta via down regulation of mTOR signaling

ConclusionWe report dominant negative variants in theKIF5B kinesin motor domain in individuals with osteogenesis imperfecta. This study expands the spectrum of kinesin-related disorders and identifies dysregulated signaling targets forKIF5B in skeletal development.

https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1011005

Source: PLoS Genetics - November 7, 2023 Category: Genetics & Stem Cells Authors: Ronit Marom Source Type: research