Check our new paper: BBS1 mutations in #BardetBiedl
Syndrome define two functional classes: severe variants disrupt #BBSome assembly or ciliary localization, while milder variants impair specifically TOM1L2-dependent export of ubiquitinated cargo from cilia. www.biorxiv.org/content/10.6...

How does the redhead MC1R mutation cause red hair? New @plosbiology.bsky.social study shows that the R151C & R160W mutations affect binding of MC1R to the #BBSome in the primary cilium of #melanocytes after UV exposure, impacting the downstream stimulation of #melanogenesis - plos.io/4eZYebx