Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients

The heterodimeric kinesin-2 motor (KIF3A/KIF3B with accessory protein KAP3) drives intraflagellar transport, essential for ciliogenesis and ciliary function. Three point mutations in the KIF3B subunit have recently been linked to disease in humans (E250Q and L523P) and Bengal cats (A334T) (Cogné et...

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發表在:	Frontiers in Molecular Biosciences
Main Authors:	Jessica M. Adams, Caleb Sawe, Skye Rogers, Jordyn Reid, Ronith Dasari, Martin F. Engelke
格式:	Article
語言:	英语
出版:	Frontiers Media S.A. 2024-04-01
主題:	Kif3B kinesin-2 ciliogenesis retina degeneration ciliopathy rigor kinesin
在線閱讀:	https://www.frontiersin.org/articles/10.3389/fmolb.2024.1327963/full